Mutagenetix > Incidental Mutation

Incidental Mutation 'R5274:Pacc1'

403797

Institutional Source

Beutler Lab

Gene Symbol

Pacc1

Ensembl Gene

ENSMUSG00000026627

Gene Name

proton activated chloride channel 1

Synonyms

Tmem206, 2310028N02Rik

MMRRC Submission

042837-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5274 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

191058109-191083111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 191080665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 295 (V295A)

Ref Sequence

ENSEMBL: ENSMUSP00000027940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027940] [ENSMUST00000067976]

AlphaFold

Q9D771

Predicted Effect

probably damaging
Transcript: ENSMUST00000027940
AA Change: V295A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027940
Gene: ENSMUSG00000026627
AA Change: V295A

Domain	Start	End	E-Value	Type
coiled coil region	2	36	N/A	INTRINSIC
Pfam:TMEM206	55	349	7.2e-173	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067976

SMART Domains

Protein: ENSMUSP00000070726
Gene: ENSMUSG00000026626

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	30	51	N/A	INTRINSIC
Pfam:B56	56	462	3.6e-193	PFAM

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 98.0%
20x: 96.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,092,856 (GRCm39)	R155H	probably benign	Het
Ace	T	C	11: 105,858,863 (GRCm39)	M19T	probably benign	Het
Agl	A	G	3: 116,566,135 (GRCm39)	L995P	probably damaging	Het
AY761185	T	C	8: 21,433,889 (GRCm39)	N90S	unknown	Het
Brca2	T	C	5: 150,463,154 (GRCm39)	S973P	probably benign	Het
Cacna1e	T	C	1: 154,576,250 (GRCm39)	T66A	probably damaging	Het
Cbarp	T	C	10: 79,967,649 (GRCm39)	S531G	possibly damaging	Het
Cby2	A	G	14: 75,820,666 (GRCm39)	V362A	probably benign	Het
Cd96	G	T	16: 45,890,066 (GRCm39)	T319K	possibly damaging	Het
Ceacam23	T	C	7: 17,649,642 (GRCm39)		probably null	Het
Chil5	A	C	3: 105,936,169 (GRCm39)	F41C	probably damaging	Het
Col24a1	A	C	3: 145,190,433 (GRCm39)	E1239D	probably benign	Het
Dip2b	A	G	15: 100,109,985 (GRCm39)	E1490G	possibly damaging	Het
Dync1li1	T	C	9: 114,544,273 (GRCm39)	V315A	possibly damaging	Het
Dync2h1	T	C	9: 7,116,540 (GRCm39)	S99G	probably benign	Het
Dynlt5	A	T	4: 102,859,768 (GRCm39)	T103S	possibly damaging	Het
E2f8	C	T	7: 48,516,925 (GRCm39)	R818H	probably damaging	Het
Eomes	T	C	9: 118,309,597 (GRCm39)	V250A	probably damaging	Het
Esyt3	T	C	9: 99,200,350 (GRCm39)	T615A	probably benign	Het
Fbxo38	A	T	18: 62,648,140 (GRCm39)	D799E	probably damaging	Het
Fdft1	A	G	14: 63,389,792 (GRCm39)	F288S	probably damaging	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gm4871	C	G	5: 144,967,180 (GRCm39)	E185Q	probably damaging	Het
Gm5901	C	A	7: 105,026,655 (GRCm39)	P141Q	probably damaging	Het
Herc1	T	A	9: 66,306,691 (GRCm39)	I933N	probably benign	Het
Ifih1	T	C	2: 62,442,062 (GRCm39)	Q385R	probably benign	Het
Ighmbp2	T	C	19: 3,315,518 (GRCm39)	E634G	probably damaging	Het
Klk6	C	G	7: 43,478,553 (GRCm39)		probably null	Het
Kmt2d	A	G	15: 98,752,111 (GRCm39)		probably benign	Het
Lig3	T	A	11: 82,688,118 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 41,234,456 (GRCm39)	D310G	probably null	Het
Mroh6	A	G	15: 75,756,849 (GRCm39)	V571A	possibly damaging	Het
Olfm5	A	G	7: 103,809,190 (GRCm39)	S132P	probably damaging	Het
Or52n20	T	C	7: 104,320,733 (GRCm39)	S275P	probably damaging	Het
Or5p64	A	T	7: 107,854,842 (GRCm39)	F168I	probably benign	Het
Patj	G	C	4: 98,407,218 (GRCm39)	S4T	probably damaging	Het
Pcdhga12	T	A	18: 37,899,475 (GRCm39)	C102*	probably null	Het
Pik3ap1	T	C	19: 41,270,391 (GRCm39)	D766G	possibly damaging	Het
Plch2	A	T	4: 155,083,411 (GRCm39)	L408Q	probably damaging	Het
Pnma2	G	T	14: 67,154,209 (GRCm39)	R211L	probably damaging	Het
Prkg2	T	A	5: 99,117,850 (GRCm39)	H468L	probably damaging	Het
Rad1	T	A	15: 10,488,059 (GRCm39)		probably null	Het
Rims3	A	G	4: 120,748,571 (GRCm39)	D264G	probably damaging	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rrm2	T	A	12: 24,760,406 (GRCm39)	Y75*	probably null	Het
Sall3	T	C	18: 81,013,052 (GRCm39)	N1128S	probably benign	Het
Slc26a5	T	C	5: 22,018,899 (GRCm39)	T610A	possibly damaging	Het
Snx29	G	T	16: 11,556,268 (GRCm39)	E766D	probably damaging	Het
Sox17	A	G	1: 4,562,111 (GRCm39)	V298A	possibly damaging	Het
Ss18	G	A	18: 14,774,106 (GRCm39)	Q228*	probably null	Het
Tas2r121	A	G	6: 132,677,811 (GRCm39)	S54P	probably damaging	Het
Ttc21b	T	C	2: 66,066,627 (GRCm39)	E342G	possibly damaging	Het
Ubap2l	A	G	3: 89,920,037 (GRCm39)	Y818H	probably damaging	Het
Usp15	C	A	10: 123,004,256 (GRCm39)	R166I	probably damaging	Het
Vmn1r34	T	G	6: 66,614,123 (GRCm39)	H205P	probably damaging	Het
Vmn2r22	A	T	6: 123,627,593 (GRCm39)	M1K	probably null	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zdhhc1	T	C	8: 106,210,402 (GRCm39)	N5S	probably benign	Het
Zfp758	T	A	17: 22,594,836 (GRCm39)	C441S	probably benign	Het
Zp2	T	C	7: 119,737,315 (GRCm39)	E291G	possibly damaging	Het

Other mutations in Pacc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Pacc1	APN	1	191,060,405 (GRCm39)	missense	unknown
IGL02318:Pacc1	APN	1	191,080,605 (GRCm39)	missense	possibly damaging	0.90
IGL03180:Pacc1	APN	1	191,071,089 (GRCm39)	missense	probably damaging	1.00
R1301:Pacc1	UTSW	1	191,080,632 (GRCm39)	missense	probably damaging	1.00
R1445:Pacc1	UTSW	1	191,080,559 (GRCm39)	unclassified	probably benign
R1463:Pacc1	UTSW	1	191,060,486 (GRCm39)	splice site	probably benign
R1610:Pacc1	UTSW	1	191,077,262 (GRCm39)	missense	probably benign	0.04
R2149:Pacc1	UTSW	1	191,077,306 (GRCm39)	missense	probably benign	0.04
R4418:Pacc1	UTSW	1	191,080,629 (GRCm39)	missense	probably damaging	1.00
R4825:Pacc1	UTSW	1	191,073,040 (GRCm39)	missense	probably damaging	0.97
R5842:Pacc1	UTSW	1	191,078,986 (GRCm39)	missense	probably damaging	1.00
R5956:Pacc1	UTSW	1	191,080,568 (GRCm39)	missense	probably damaging	1.00
R6031:Pacc1	UTSW	1	191,073,037 (GRCm39)	missense	probably benign	0.09
R6031:Pacc1	UTSW	1	191,073,037 (GRCm39)	missense	probably benign	0.09
R7500:Pacc1	UTSW	1	191,078,910 (GRCm39)	splice site	probably null
R7670:Pacc1	UTSW	1	191,073,065 (GRCm39)	missense	probably benign	0.19
R9331:Pacc1	UTSW	1	191,077,318 (GRCm39)	critical splice donor site	probably null
R9516:Pacc1	UTSW	1	191,082,004 (GRCm39)	missense	probably damaging	1.00
R9539:Pacc1	UTSW	1	191,077,174 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCCAAAGGATGCTGTTAGG -3'
(R):5'- CCAAACTTGAGGGTCAGGAG -3'

Sequencing Primer
(F):5'- GGCTAGTAGTCCTGCCTGCTC -3'
(R):5'- TCAGGAGTGACAGCAAAATATGTCTG -3'

Posted On

2016-07-22