Mutagenetix > Incidental Mutation

Incidental Mutation 'R5956:Pacc1'

471159

Institutional Source

Beutler Lab

Gene Symbol

Pacc1

Ensembl Gene

ENSMUSG00000026627

Gene Name

proton activated chloride channel 1

Synonyms

Tmem206, 2310028N02Rik

MMRRC Submission

044144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

191058109-191083111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 191080568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 263 (S263G)

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: S263G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027940
Gene: ENSMUSG00000026627
AA Change: S263G

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

Meta Mutation Damage Score

0.1276

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,203,893 (GRCm39)	I398K	possibly damaging	Het
Acad9	A	G	3: 36,129,323 (GRCm39)		probably benign	Het
Acsm2	T	C	7: 119,153,704 (GRCm39)	S5P	unknown	Het
Akp3	T	C	1: 87,054,667 (GRCm39)	I334T	probably damaging	Het
Amy1	C	T	3: 113,357,311 (GRCm39)	R176H	probably benign	Het
Ank2	A	T	3: 126,736,337 (GRCm39)		probably benign	Het
Cav1	C	A	6: 17,307,918 (GRCm39)	N23K	probably damaging	Het
Cep126	A	G	9: 8,112,120 (GRCm39)	V151A	probably benign	Het
Cnot1	A	G	8: 96,481,606 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,623,146 (GRCm39)	V448E	probably damaging	Het
Csmd3	T	C	15: 48,655,278 (GRCm39)	E8G	possibly damaging	Het
Ddx31	A	T	2: 28,764,185 (GRCm39)	I464F	probably damaging	Het
Ddx54	A	G	5: 120,764,432 (GRCm39)		probably benign	Het
Dhx16	A	G	17: 36,193,762 (GRCm39)	E319G	probably damaging	Het
Efl1	A	G	7: 82,301,107 (GRCm39)	D37G	probably damaging	Het
Epha5	T	C	5: 84,298,228 (GRCm39)	R444G	probably damaging	Het
Exoc2	C	A	13: 31,004,606 (GRCm39)	C859F	probably benign	Het
Gbx2	T	C	1: 89,860,908 (GRCm39)		probably benign	Het
Gm12258	G	A	11: 58,750,285 (GRCm39)	A9T	probably benign	Het
Gpr141b	T	G	13: 19,913,300 (GRCm39)		noncoding transcript	Het
Grm4	A	G	17: 27,654,129 (GRCm39)	V607A	probably benign	Het
Gvin3	T	C	7: 106,200,677 (GRCm39)		noncoding transcript	Het
Ighv1-74	C	A	12: 115,766,455 (GRCm39)	W55L	probably damaging	Het
Irx4	C	A	13: 73,415,626 (GRCm39)	Y138*	probably null	Het
Itpr1	C	A	6: 108,482,988 (GRCm39)	T2352K	probably benign	Het
Kcnk3	T	G	5: 30,745,854 (GRCm39)	V65G	probably damaging	Het
Mctp2	T	C	7: 71,908,923 (GRCm39)	E130G	probably benign	Het
Mgat5	C	A	1: 127,310,676 (GRCm39)	R197S	probably benign	Het
Mpg	T	C	11: 32,177,951 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,417,910 (GRCm39)	C3619R	probably damaging	Het
Myo15b	G	A	11: 115,764,583 (GRCm39)	V1321I	probably benign	Het
Myo1b	T	C	1: 51,815,391 (GRCm39)	T658A	probably damaging	Het
Nomo1	T	C	7: 45,692,037 (GRCm39)	S154P	possibly damaging	Het
Nsd1	T	A	13: 55,411,217 (GRCm39)	F1423I	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or9g3	A	G	2: 85,584,183 (GRCm39)		probably benign	Het
Osbpl6	A	G	2: 76,379,856 (GRCm39)	R149G	probably damaging	Het
Papola	T	A	12: 105,777,300 (GRCm39)	W281R	probably damaging	Het
Pole	C	T	5: 110,485,153 (GRCm39)		probably benign	Het
Rptn	A	G	3: 93,305,334 (GRCm39)	N889S	possibly damaging	Het
Scn10a	A	G	9: 119,460,626 (GRCm39)	S1084P	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Siglece	T	C	7: 43,308,760 (GRCm39)	T198A	probably damaging	Het
Sptb	T	A	12: 76,650,942 (GRCm39)	M1678L	probably benign	Het
Taf8	A	T	17: 47,809,467 (GRCm39)	M98K	probably damaging	Het
Tead2	T	A	7: 44,870,138 (GRCm39)		probably benign	Het
Trrap	C	T	5: 144,744,201 (GRCm39)		silent	Het
Ttn	G	T	2: 76,775,914 (GRCm39)	N1709K	probably damaging	Het
Ube3a	T	C	7: 58,926,768 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,804,054 (GRCm39)		probably benign	Het
Unc80	T	C	1: 66,567,123 (GRCm39)	S910P	probably damaging	Het
Usp30	G	A	5: 114,257,682 (GRCm39)	R280Q	possibly damaging	Het
Vsx1	T	C	2: 150,530,457 (GRCm39)	S142G	possibly damaging	Het
Wdr95	T	G	5: 149,517,947 (GRCm39)	C360G	probably benign	Het
Zbtb4	A	G	11: 69,669,040 (GRCm39)	I588V	probably benign	Het
Zdhhc4	A	T	5: 143,310,604 (GRCm39)		probably benign	Het
Zfp568	C	A	7: 29,697,288 (GRCm39)	N69K	probably 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
R5274:Pacc1	UTSW	1	191,080,665 (GRCm39)	missense	probably damaging	0.99
R5842:Pacc1	UTSW	1	191,078,986 (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'- TCTTCTCTCCCAAAGACCGAGG -3'
(R):5'- TGTTGCAACGATCACCCTG -3'

Sequencing Primer
(F):5'- GGCTCCTGGACCATTTAAAAGGTC -3'
(R):5'- GATCACCCTGGGACATCTTGTG -3'

Posted On

2017-03-31