Mutagenetix > Incidental Mutation

Incidental Mutation 'R1029:Pttg1ip2'

95127

Institutional Source

Beutler Lab

Gene Symbol

Pttg1ip2

Ensembl Gene

ENSMUSG00000079666

Gene Name

PTTG1IP family member 2

Synonyms

LOC381716, 1700015F17Rik

MMRRC Submission

039131-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5487827-5529143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5505919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 121 (A121T)

Ref Sequence

ENSEMBL: ENSMUSP00000111107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115447] [ENSMUST00000128151] [ENSMUST00000156282]

AlphaFold

D3YUK8

Predicted Effect

probably benign
Transcript: ENSMUST00000115447
AA Change: A121T

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111107
Gene: ENSMUSG00000079666
AA Change: A121T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128151

Predicted Effect

probably benign
Transcript: ENSMUST00000156282

SMART Domains

Protein: ENSMUSP00000122651
Gene: ENSMUSG00000079666

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.2%
20x: 94.5%

Validation Efficiency

92% (36/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	A	G	11: 30,376,177 (GRCm39)	L230S	probably damaging	Het
4930505A04Rik	A	G	11: 30,396,389 (GRCm39)		probably benign	Het
Atg2b	A	G	12: 105,602,032 (GRCm39)	I1648T	probably damaging	Het
Ccdc110	T	C	8: 46,394,817 (GRCm39)	F236S	probably damaging	Het
Ccdc178	T	C	18: 22,230,782 (GRCm39)	D363G	possibly damaging	Het
Cntn5	T	A	9: 9,831,577 (GRCm39)	D601V	probably damaging	Het
Cog7	C	T	7: 121,529,752 (GRCm39)		probably null	Het
Dnah7c	A	G	1: 46,651,881 (GRCm39)	K1365E	probably damaging	Het
Dock9	T	C	14: 121,837,096 (GRCm39)		probably null	Het
Ehd3	T	A	17: 74,123,321 (GRCm39)	I108N	probably benign	Het
Erbb4	A	G	1: 68,348,773 (GRCm39)	S535P	probably damaging	Het
Fam170a	T	C	18: 50,414,741 (GRCm39)	V129A	probably damaging	Het
Gfra3	T	C	18: 34,823,892 (GRCm39)	T361A	probably benign	Het
Gm10295	A	T	7: 71,000,448 (GRCm39)	I44K	unknown	Het
Gm10553	T	C	1: 85,078,170 (GRCm39)	S96P	probably benign	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Hspa13	A	T	16: 75,562,125 (GRCm39)	Y25N	probably damaging	Het
Lrfn3	G	A	7: 30,055,347 (GRCm39)	P533S	probably damaging	Het
Lrp4	A	G	2: 91,317,372 (GRCm39)		probably benign	Het
Mical3	T	C	6: 120,911,639 (GRCm39)	D1991G	probably benign	Het
Myoz1	A	G	14: 20,700,600 (GRCm39)	Y206H	probably damaging	Het
Or2at1	A	T	7: 99,416,431 (GRCm39)	I21F	probably benign	Het
Otog	A	G	7: 45,924,019 (GRCm39)	E1126G	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,472,613 (GRCm39)		probably benign	Het
Rab7	A	G	6: 87,990,624 (GRCm39)	S17P	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Sppl2a	A	G	2: 126,765,514 (GRCm39)	S203P	probably benign	Het
Taar7a	A	G	10: 23,868,439 (GRCm39)	I314T	possibly damaging	Het
Tgs1	T	C	4: 3,593,471 (GRCm39)	I453T	probably damaging	Het
Tmem117	C	A	15: 94,909,217 (GRCm39)	T210N	probably benign	Het
Trim55	A	G	3: 19,698,906 (GRCm39)	N45S	probably damaging	Het
Ugt2b34	G	C	5: 87,052,246 (GRCm39)	S250*	probably null	Het
Vmn2r67	G	A	7: 84,785,974 (GRCm39)	T677I	probably damaging	Het
Zfp335	C	G	2: 164,734,598 (GRCm39)		probably benign	Het
Znrf1	T	A	8: 112,263,986 (GRCm39)	Y72N	probably damaging	Het

Other mutations in Pttg1ip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02125:Pttg1ip2	APN	5	5,500,644 (GRCm39)	makesense	probably null
IGL02701:Pttg1ip2	APN	5	5,516,623 (GRCm39)	critical splice donor site	probably null
IGL02821:Pttg1ip2	APN	5	5,502,039 (GRCm39)	nonsense	probably null
R1463:Pttg1ip2	UTSW	5	5,502,073 (GRCm39)	splice site	probably benign
R1525:Pttg1ip2	UTSW	5	5,502,019 (GRCm39)	missense	probably benign	0.00
R1550:Pttg1ip2	UTSW	5	5,502,019 (GRCm39)	missense	probably benign	0.00
R1764:Pttg1ip2	UTSW	5	5,528,943 (GRCm39)	missense	possibly damaging	0.83
R1911:Pttg1ip2	UTSW	5	5,502,019 (GRCm39)	missense	probably benign	0.00
R1912:Pttg1ip2	UTSW	5	5,502,019 (GRCm39)	missense	probably benign	0.00
R1930:Pttg1ip2	UTSW	5	5,502,019 (GRCm39)	missense	probably benign	0.00
R1931:Pttg1ip2	UTSW	5	5,502,019 (GRCm39)	missense	probably benign	0.00
R2013:Pttg1ip2	UTSW	5	5,505,964 (GRCm39)	missense	probably benign	0.00
R2014:Pttg1ip2	UTSW	5	5,505,964 (GRCm39)	missense	probably benign	0.00
R2015:Pttg1ip2	UTSW	5	5,505,964 (GRCm39)	missense	probably benign	0.00
R2151:Pttg1ip2	UTSW	5	5,528,875 (GRCm39)	missense	possibly damaging	0.46
R2420:Pttg1ip2	UTSW	5	5,505,912 (GRCm39)	missense	probably benign	0.00
R2421:Pttg1ip2	UTSW	5	5,505,912 (GRCm39)	missense	probably benign	0.00
R3056:Pttg1ip2	UTSW	5	5,507,283 (GRCm39)	critical splice donor site	probably null
R4012:Pttg1ip2	UTSW	5	5,528,955 (GRCm39)	missense	probably damaging	1.00
R7136:Pttg1ip2	UTSW	5	5,516,631 (GRCm39)	missense	possibly damaging	0.91
R7448:Pttg1ip2	UTSW	5	5,505,952 (GRCm39)	missense	probably benign	0.00
Z1177:Pttg1ip2	UTSW	5	5,507,284 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGACACAAACAGCCACTGAAGGAT -3'
(R):5'- CCTCACCTGTGGAGAAAGTACCAACAA -3'

Sequencing Primer
(F):5'- aagggggaggaggagaaag -3'
(R):5'- GCCTTATGTTCAACAGTGATCTGAG -3'

Posted On

2014-01-05