Mutagenetix > Incidental Mutation

Incidental Mutation 'R5537:Clrn3'

434878

Institutional Source

Beutler Lab

Gene Symbol

Clrn3

Ensembl Gene

ENSMUSG00000050866

Gene Name

clarin 3

Synonyms

Tmem12

MMRRC Submission

043095-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5537 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135113195-135130383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135115791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 186 (H186Q)

Ref Sequence

ENSEMBL: ENSMUSP00000056245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053716]

AlphaFold

Q8BHH8

Predicted Effect

probably benign
Transcript: ENSMUST00000053716
AA Change: H186Q

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000056245
Gene: ENSMUSG00000050866
AA Change: H186Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	91	113	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
transmembrane domain	179	201	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 9,005,485 (GRCm39)	I1123F	probably damaging	Het
Acsl3	C	T	1: 78,684,073 (GRCm39)	R702C	probably damaging	Het
Ank1	A	G	8: 23,604,892 (GRCm39)	E1031G	probably damaging	Het
Ankle2	T	C	5: 110,397,361 (GRCm39)	S536P	probably damaging	Het
Arfgef2	G	T	2: 166,698,513 (GRCm39)		probably null	Het
Bahd1	G	T	2: 118,746,461 (GRCm39)	D27Y	probably damaging	Het
Brinp2	C	T	1: 158,082,583 (GRCm39)	V246I	probably damaging	Het
Ccdc187	C	A	2: 26,166,237 (GRCm39)	A731S	probably benign	Het
Cdc37l1	T	A	19: 28,972,518 (GRCm39)	N70K	probably damaging	Het
Cdk5r1	A	G	11: 80,368,825 (GRCm39)	Y164C	probably damaging	Het
Col12a1	G	A	9: 79,606,872 (GRCm39)	T517I	probably damaging	Het
Crhr1	T	A	11: 104,054,682 (GRCm39)	N98K	possibly damaging	Het
Dst	C	T	1: 34,228,959 (GRCm39)	S2362L	probably benign	Het
Eapp	G	A	12: 54,738,844 (GRCm39)	T98I	probably benign	Het
Iqsec3	T	C	6: 121,389,603 (GRCm39)		probably benign	Het
Kctd12	A	G	14: 103,219,713 (GRCm39)	V55A	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lgr5	T	C	10: 115,292,594 (GRCm39)	D432G	probably benign	Het
Mrgprx1	T	A	7: 47,670,898 (GRCm39)	H283L	probably benign	Het
Nlrp4e	T	C	7: 23,019,914 (GRCm39)	F134L	probably benign	Het
Or1e34	T	C	11: 73,778,523 (GRCm39)	K225R	probably benign	Het
Or4f14b	A	T	2: 111,775,393 (GRCm39)	M136K	probably damaging	Het
Or5m5	T	A	2: 85,814,570 (GRCm39)	Y129N	possibly damaging	Het
Or8b43	T	A	9: 38,360,538 (GRCm39)	Y123*	probably null	Het
Pfkp	C	A	13: 6,669,278 (GRCm39)	W235L	probably damaging	Het
Prom1	C	T	5: 44,158,118 (GRCm39)		probably null	Het
Psma5-ps	A	G	10: 85,149,913 (GRCm39)		noncoding transcript	Het
Rab14	A	T	2: 35,082,649 (GRCm39)	F12L	possibly damaging	Het
Rnf40	T	A	7: 127,195,261 (GRCm39)	I429N	probably benign	Het
S100pbp	G	A	4: 129,075,981 (GRCm39)	P115S	probably benign	Het
Scarf1	G	A	11: 75,416,357 (GRCm39)	A600T	probably damaging	Het
Slc6a5	T	C	7: 49,609,059 (GRCm39)	F755L	probably benign	Het
Slc7a2	A	T	8: 41,367,023 (GRCm39)	I510F	probably benign	Het
Spag16	T	C	1: 69,866,175 (GRCm39)	S5P	probably benign	Het
Tex15	A	G	8: 34,061,641 (GRCm39)	Y631C	probably damaging	Het
Tmem182	A	T	1: 40,894,069 (GRCm39)	I195F	probably benign	Het
Tox	A	G	4: 6,697,510 (GRCm39)	L431P	probably damaging	Het
Tprn	G	A	2: 25,153,369 (GRCm39)	A224T	probably benign	Het
Tsg101	T	C	7: 46,540,876 (GRCm39)	K294E	probably benign	Het
Tubb2a	C	A	13: 34,259,434 (GRCm39)	V119L	probably benign	Het
Vps37d	C	T	5: 135,103,256 (GRCm39)	E129K	possibly damaging	Het
Zfp974	TAATCTGTCTCCAAATCTG	TAATCTG	7: 27,611,671 (GRCm39)		probably benign	Het
Zpld1	A	G	16: 55,054,003 (GRCm39)	V263A	possibly damaging	Het

Other mutations in Clrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0550:Clrn3	UTSW	7	135,130,154 (GRCm39)	missense	possibly damaging	0.76
R1676:Clrn3	UTSW	7	135,120,307 (GRCm39)	missense	probably damaging	0.96
R1935:Clrn3	UTSW	7	135,115,753 (GRCm39)	missense	possibly damaging	0.84
R1936:Clrn3	UTSW	7	135,115,753 (GRCm39)	missense	possibly damaging	0.84
R1950:Clrn3	UTSW	7	135,115,813 (GRCm39)	missense	possibly damaging	0.46
R1993:Clrn3	UTSW	7	135,115,848 (GRCm39)	missense	probably benign
R3440:Clrn3	UTSW	7	135,115,854 (GRCm39)	nonsense	probably null
R3441:Clrn3	UTSW	7	135,115,854 (GRCm39)	nonsense	probably null
R3890:Clrn3	UTSW	7	135,120,194 (GRCm39)	missense	possibly damaging	0.74
R3891:Clrn3	UTSW	7	135,120,194 (GRCm39)	missense	possibly damaging	0.74
R7330:Clrn3	UTSW	7	135,130,198 (GRCm39)	missense	probably damaging	0.99
R8165:Clrn3	UTSW	7	135,130,133 (GRCm39)	missense	probably benign	0.00
R8675:Clrn3	UTSW	7	135,115,880 (GRCm39)	missense	possibly damaging	0.92
X0066:Clrn3	UTSW	7	135,115,926 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCGTGGTTCCAGAAGCGATG -3'
(R):5'- ATGAAGCTCCATCTTCTTTGCAG -3'

Sequencing Primer
(F):5'- ATGGCACCTGACAGTTGCTC -3'
(R):5'- AGCATCCTTTGTGTTTCTGGC -3'

Posted On

2016-10-24