Mutagenetix > Incidental Mutation

Incidental Mutation 'R1974:C1qtnf5'

221433

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf5

Ensembl Gene

ENSMUSG00000079592

Gene Name

C1q and tumor necrosis factor related protein 5

Synonyms

CTRP5

MMRRC Submission

039987-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44018542-44020484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44020072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 232 (V232A)

Ref Sequence

ENSEMBL: ENSMUSP00000110469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034654] [ENSMUST00000056328] [ENSMUST00000065379] [ENSMUST00000114815] [ENSMUST00000114816] [ENSMUST00000114818] [ENSMUST00000114821] [ENSMUST00000205500] [ENSMUST00000206295] [ENSMUST00000206769] [ENSMUST00000206308] [ENSMUST00000161381] [ENSMUST00000161703] [ENSMUST00000215685] [ENSMUST00000185479] [ENSMUST00000152956] [ENSMUST00000162126] [ENSMUST00000216511]

AlphaFold

Q8K479

Predicted Effect

probably benign
Transcript: ENSMUST00000034654

SMART Domains

Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
CUB	307	420	1.85e-37	SMART
Pfam:Fz	471	577	3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056328

SMART Domains

Protein: ENSMUSP00000110478
Gene: ENSMUSG00000053128

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065379

SMART Domains

Protein: ENSMUSP00000070060
Gene: ENSMUSG00000053128

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114815
AA Change: V232A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110463
Gene: ENSMUSG00000079592
AA Change: V232A

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114816
AA Change: V232A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110464
Gene: ENSMUSG00000079592
AA Change: V232A

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114818
AA Change: V232A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110466
Gene: ENSMUSG00000079592
AA Change: V232A

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114821
AA Change: V232A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110469
Gene: ENSMUSG00000079592
AA Change: V232A

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	220	1.01e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181106

Predicted Effect

probably benign
Transcript: ENSMUST00000205500

Predicted Effect

probably benign
Transcript: ENSMUST00000206722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174014

Predicted Effect

probably benign
Transcript: ENSMUST00000206295

Predicted Effect

probably benign
Transcript: ENSMUST00000206769

Predicted Effect

probably benign
Transcript: ENSMUST00000206308

Predicted Effect

probably benign
Transcript: ENSMUST00000161381

SMART Domains

Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
CUB	307	420	1.85e-37	SMART
Pfam:Fz	465	576	9.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161703

SMART Domains

Protein: ENSMUSP00000125053
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
LDLa	307	342	2.09e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000215685

Predicted Effect

probably benign
Transcript: ENSMUST00000185479

SMART Domains

Protein: ENSMUSP00000140405
Gene: ENSMUSG00000111409

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160985

SMART Domains

Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128

Domain	Start	End	E-Value	Type
RING	11	52	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152956

SMART Domains

Protein: ENSMUSP00000123040
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
Pfam:Collagen	28	102	7.2e-10	PFAM
Pfam:C1q	105	138	1.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162126

SMART Domains

Protein: ENSMUSP00000123938
Gene: ENSMUSG00000111409

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216960

Predicted Effect

probably benign
Transcript: ENSMUST00000216511

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the C1q/tumor necrosis factor superfamily. This family member is a secretory protein that functions in eye development. Mutations in this gene are thought to underlie the pathophysiology of late-onset retinal degeneration (L-ORD) and early-onset long anterior zonules (LAZ). Bicistronic transcripts composed of the coding sequences for this gene (C1qtnf5) and the membrane-type frizzled-related protein gene (Mfrp) have been identified, and the resulting products can interact with each other. Co-transcription of C1qtnf5 and Mfrp has been observed in both human and mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Heterozygotes for a knock-in mutation show features of late-onset retinal degeneration, whereas hetero- or homozygotes for the same knock-in generated by a different group lack retinal defects. Homozygous null mice exhibit reduced hepatic steatosis and improved insulin action on a high-fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,028 (GRCm39)	L739Q	probably damaging	Het
4933436I01Rik	A	T	X: 66,963,655 (GRCm39)	Y401*	probably null	Het
Abcg3	A	G	5: 105,111,504 (GRCm39)	V321A	probably benign	Het
Acad10	C	A	5: 121,764,248 (GRCm39)	V894L	possibly damaging	Het
Adam9	A	G	8: 25,482,240 (GRCm39)	I255T	probably damaging	Het
Ago3	T	C	4: 126,240,544 (GRCm39)	Y785C	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Akap4	A	G	X: 6,943,595 (GRCm39)	S633G	probably benign	Het
Alox15	T	A	11: 70,240,799 (GRCm39)	T194S	probably benign	Het
Amh	T	C	10: 80,642,250 (GRCm39)	S207P	probably benign	Het
Apc	T	A	18: 34,433,057 (GRCm39)	C415S	possibly damaging	Het
Atg14	G	A	14: 47,783,298 (GRCm39)	R346C	probably damaging	Het
Atp5mf	A	T	5: 145,121,389 (GRCm39)	L64Q	probably damaging	Het
Barhl2	C	G	5: 106,605,179 (GRCm39)	E177Q	probably benign	Het
Calr	T	C	8: 85,570,786 (GRCm39)	I290V	probably benign	Het
Cdh19	G	C	1: 110,817,889 (GRCm39)	Q618E	possibly damaging	Het
Celsr2	G	T	3: 108,321,530 (GRCm39)	D427E	probably damaging	Het
Cep250	T	C	2: 155,831,424 (GRCm39)	S1294P	probably damaging	Het
Chrna7	T	A	7: 62,749,034 (GRCm39)	T483S	probably damaging	Het
Clmn	A	T	12: 104,758,121 (GRCm39)	W132R	probably damaging	Het
Cpsf2	G	A	12: 101,956,306 (GRCm39)	D370N	probably benign	Het
Crnn	T	C	3: 93,056,594 (GRCm39)	V460A	probably benign	Het
Daam1	T	A	12: 72,035,703 (GRCm39)	I957N	probably damaging	Het
Defb9	T	C	8: 22,371,905 (GRCm39)	K36R	probably benign	Het
Dock10	T	A	1: 80,488,143 (GRCm39)	I2007F	possibly damaging	Het
Dpm1	A	T	2: 168,059,667 (GRCm39)	V143D	probably damaging	Het
Dync1h1	T	C	12: 110,592,166 (GRCm39)	V1110A	possibly damaging	Het
Erlec1	T	G	11: 30,889,604 (GRCm39)	K373N	possibly damaging	Het
Fbxo40	C	T	16: 36,790,303 (GRCm39)	G269E	probably benign	Het
Fbxw7	T	A	3: 84,862,242 (GRCm39)	C70S	possibly damaging	Het
Fhip2a	T	C	19: 57,373,809 (GRCm39)	F690L	probably damaging	Het
Fnbp1	G	T	2: 30,943,059 (GRCm39)	R280S	probably null	Het
Gapvd1	G	A	2: 34,590,853 (GRCm39)	R940C	probably damaging	Het
Gfod2	T	C	8: 106,444,142 (GRCm39)	K134E	possibly damaging	Het
Gpi1	A	T	7: 33,920,228 (GRCm39)		probably null	Het
Grik2	A	T	10: 49,008,923 (GRCm39)	N721K	possibly damaging	Het
Gsn	G	T	2: 35,191,483 (GRCm39)	G455V	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hpse	A	G	5: 100,840,104 (GRCm39)	S338P	probably damaging	Het
Hyal2	T	C	9: 107,449,371 (GRCm39)	C376R	probably damaging	Het
Inf2	A	G	12: 112,574,771 (GRCm39)	T781A	unknown	Het
Iscu	A	G	5: 113,915,079 (GRCm39)		probably benign	Het
Kcna4	G	A	2: 107,126,565 (GRCm39)	G433D	possibly damaging	Het
Kir3dl2	T	A	X: 135,357,024 (GRCm39)	N146I	probably benign	Het
Klrg1	T	A	6: 122,259,721 (GRCm39)	Q17L	possibly damaging	Het
Krt82	T	G	15: 101,453,597 (GRCm39)	Q263P	probably benign	Het
Mfrp	T	C	9: 44,017,669 (GRCm39)	C554R	probably damaging	Het
Minar1	T	G	9: 89,483,256 (GRCm39)	T714P	probably damaging	Het
Mst1r	T	C	9: 107,791,962 (GRCm39)	Y833H	probably damaging	Het
Mst1r	T	A	9: 107,793,132 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nipal4	T	C	11: 46,042,210 (GRCm39)	N157S	probably damaging	Het
Notch2	G	A	3: 97,980,071 (GRCm39)	G195D	probably damaging	Het
Nrcam	A	T	12: 44,610,776 (GRCm39)	H492L	probably benign	Het
Or10aa1	A	T	1: 173,870,154 (GRCm39)	I213F	probably damaging	Het
Or4p21	A	T	2: 88,276,853 (GRCm39)	I143N	probably damaging	Het
Papln	G	A	12: 83,828,811 (GRCm39)	R817H	probably damaging	Het
Pcnx2	T	C	8: 126,614,110 (GRCm39)	E447G	probably benign	Het
Pdp2	T	C	8: 105,320,538 (GRCm39)	V129A	probably benign	Het
Plch2	A	G	4: 155,069,410 (GRCm39)	F1072S	possibly damaging	Het
Prag1	T	A	8: 36,570,081 (GRCm39)	D221E	probably damaging	Het
Prkg1	T	C	19: 31,563,095 (GRCm39)	D102G	probably damaging	Het
Psme4	T	A	11: 30,769,011 (GRCm39)	D662E	probably benign	Het
Ptprn	T	C	1: 75,231,464 (GRCm39)		probably null	Het
Ptprz1	A	G	6: 22,986,310 (GRCm39)	D370G	probably damaging	Het
Qser1	A	G	2: 104,590,886 (GRCm39)	S1637P	probably damaging	Het
Sema6a	T	A	18: 47,403,696 (GRCm39)	H642L	probably benign	Het
Slc30a5	A	T	13: 100,950,461 (GRCm39)	F209I	probably benign	Het
Slc4a3	G	T	1: 75,528,835 (GRCm39)	E508*	probably null	Het
Stpg2	C	T	3: 139,014,944 (GRCm39)	R370*	probably null	Het
Tas2r113	T	A	6: 132,870,796 (GRCm39)	F275I	probably benign	Het
Tmem132d	T	G	5: 128,346,263 (GRCm39)	K86N	probably damaging	Het
Tpgs2	A	T	18: 25,273,593 (GRCm39)	F189L	probably damaging	Het
Trmt6	A	G	2: 132,652,968 (GRCm39)	S104P	probably damaging	Het
Trpv3	T	C	11: 73,174,514 (GRCm39)	S294P	probably damaging	Het
Ugt2b36	A	G	5: 87,228,727 (GRCm39)		probably null	Het
Vmn1r170	A	T	7: 23,305,906 (GRCm39)	M103L	probably benign	Het
Vmn2r107	T	A	17: 20,575,879 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het

Other mutations in C1qtnf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02352:C1qtnf5	APN	9	44,019,631 (GRCm39)	missense	possibly damaging	0.48
IGL02359:C1qtnf5	APN	9	44,019,631 (GRCm39)	missense	possibly damaging	0.48
IGL02420:C1qtnf5	APN	9	44,019,901 (GRCm39)	missense	probably benign	0.00
R6158:C1qtnf5	UTSW	9	44,020,267 (GRCm39)	unclassified	probably benign
R8422:C1qtnf5	UTSW	9	44,019,961 (GRCm39)	missense	possibly damaging	0.92
X0065:C1qtnf5	UTSW	9	44,019,646 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGCTTGCAGTTTGATCTTG -3'
(R):5'- TCCATTCATTGCCAGCAGTG -3'

Sequencing Primer
(F):5'- TCTTGTCAAAAACGGGCAGTC -3'
(R):5'- TCATTGCCAGCAGTGGGACTG -3'

Posted On

2014-08-25