Mutagenetix > Incidental Mutation

Incidental Mutation 'R0029:Kirrel2'

44570

Institutional Source

Beutler Lab

Gene Symbol

Kirrel2

Ensembl Gene

ENSMUSG00000036915

Gene Name

kirre like nephrin family adhesion molecule 2

Synonyms

C330019F22Rik, NEPH3

MMRRC Submission

038323-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30146959-30157115 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 30152590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045817]

AlphaFold

Q7TSU7

Predicted Effect

probably benign
Transcript: ENSMUST00000045817

SMART Domains

Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915

Domain	Start	End	E-Value	Type
IG	27	117	9.18e-12	SMART
IG	128	219	5.13e-1	SMART
IG_like	230	306	8.06e0	SMART
IGc2	321	379	3.06e-8	SMART
IG_like	401	500	4.65e1	SMART
transmembrane domain	509	531	N/A	INTRINSIC
low complexity region	547	565	N/A	INTRINSIC
low complexity region	607	629	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140565

Predicted Effect

probably benign
Transcript: ENSMUST00000169893

SMART Domains

Protein: ENSMUSP00000131161
Gene: ENSMUSG00000036915

Domain	Start	End	E-Value	Type
IG	27	117	9.18e-12	SMART
IG_like	118	189	5.91e-1	SMART
IG_like	211	287	8.06e0	SMART
IGc2	302	360	3.06e-8	SMART
IG_like	382	481	4.65e1	SMART
transmembrane domain	490	512	N/A	INTRINSIC
low complexity region	528	546	N/A	INTRINSIC
low complexity region	588	610	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170152

SMART Domains

Protein: ENSMUSP00000132652
Gene: ENSMUSG00000036915

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	82	104	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

94% (48/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous null mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,225 (GRCm39)	F434L	probably benign	Het
Abt1	A	T	13: 23,606,678 (GRCm39)	F141Y	possibly damaging	Het
Anapc15-ps	A	G	10: 95,508,857 (GRCm39)	I141T	probably damaging	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Axin2	A	G	11: 108,814,873 (GRCm39)	T254A	probably benign	Het
Ccn4	C	T	15: 66,784,713 (GRCm39)	R129C	probably damaging	Het
Ciz1	A	G	2: 32,261,431 (GRCm39)		probably benign	Het
Cpa4	A	G	6: 30,585,044 (GRCm39)	Y276C	probably damaging	Het
Cpt1a	A	G	19: 3,431,674 (GRCm39)	D698G	probably benign	Het
Crebbp	T	C	16: 3,935,307 (GRCm39)	T861A	probably damaging	Het
Dpy19l2	T	A	9: 24,469,397 (GRCm39)	D753V	probably damaging	Het
Exosc7	A	T	9: 122,948,302 (GRCm39)		probably benign	Het
Fbxw28	T	A	9: 109,157,357 (GRCm39)	D244V	probably damaging	Het
Fgd5	A	G	6: 92,044,539 (GRCm39)	D1260G	probably benign	Het
Gapvd1	T	A	2: 34,568,153 (GRCm39)	I1404F	probably damaging	Het
Gas7	A	G	11: 67,534,163 (GRCm39)	S88G	probably benign	Het
Hk1	T	C	10: 62,151,173 (GRCm39)	D57G	probably damaging	Het
Il23r	A	C	6: 67,455,929 (GRCm39)		probably null	Het
Impg1	T	C	9: 80,305,653 (GRCm39)	D138G	probably damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Lipm	T	C	19: 34,093,948 (GRCm39)		probably benign	Het
Lrpap1	T	C	5: 35,255,021 (GRCm39)	N205S	possibly damaging	Het
Mboat4	T	G	8: 34,587,363 (GRCm39)	F87V	probably damaging	Het
Nadsyn1	G	C	7: 143,359,815 (GRCm39)	Q386E	probably benign	Het
Nell1	G	A	7: 49,770,463 (GRCm39)		probably benign	Het
Or5ac25	T	C	16: 59,181,904 (GRCm39)	R226G	probably benign	Het
Or8g35	T	A	9: 39,381,956 (GRCm39)	E22V	probably benign	Het
Pard3	G	T	8: 128,153,239 (GRCm39)		probably benign	Het
Per2	C	A	1: 91,351,434 (GRCm39)	R1024L	possibly damaging	Het
Phf11c	T	C	14: 59,622,364 (GRCm39)	D216G	probably benign	Het
Polk	G	A	13: 96,653,178 (GRCm39)	T74I	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Psmb7	T	A	2: 38,523,919 (GRCm39)	H152L	probably damaging	Het
Ralgps1	A	T	2: 33,031,031 (GRCm39)	D498E	probably benign	Het
Slc26a2	G	A	18: 61,335,382 (GRCm39)	P24S	possibly damaging	Het
Slc4a11	A	G	2: 130,529,974 (GRCm39)	F268S	probably damaging	Het
Spmip11	T	C	15: 98,483,190 (GRCm39)		probably null	Het
Stk38	T	C	17: 29,201,112 (GRCm39)	E188G	probably benign	Het
Sulf2	T	C	2: 165,958,893 (GRCm39)	N105S	possibly damaging	Het
Sult2a3	T	A	7: 13,806,999 (GRCm39)	M228L	probably benign	Het
Svil	C	A	18: 5,063,286 (GRCm39)	D852E	probably benign	Het
Tcaf2	A	T	6: 42,607,093 (GRCm39)	L287*	probably null	Het
Tmem132e	A	T	11: 82,335,587 (GRCm39)	I890F	probably damaging	Het
Tmem63a	A	G	1: 180,790,031 (GRCm39)	Y401C	probably benign	Het
Ttn	T	C	2: 76,596,850 (GRCm39)	E20021G	probably damaging	Het
Ubac1	G	T	2: 25,911,455 (GRCm39)	T31N	probably benign	Het
Usp29	T	C	7: 6,964,580 (GRCm39)	L141P	probably damaging	Het
Vmn1r179	A	T	7: 23,628,630 (GRCm39)	I274F	probably benign	Het
Vmn1r204	A	G	13: 22,740,588 (GRCm39)	Y73C	probably benign	Het
Vmn2r2	T	C	3: 64,024,365 (GRCm39)	I739V	probably benign	Het

Other mutations in Kirrel2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Kirrel2	APN	7	30,153,089 (GRCm39)	missense	probably benign	0.03
IGL02457:Kirrel2	APN	7	30,152,165 (GRCm39)	missense	probably damaging	1.00
IGL02609:Kirrel2	APN	7	30,147,765 (GRCm39)	missense	probably benign	0.00
R0395:Kirrel2	UTSW	7	30,149,883 (GRCm39)	missense	possibly damaging	0.68
R0987:Kirrel2	UTSW	7	30,147,555 (GRCm39)	missense	probably damaging	1.00
R1511:Kirrel2	UTSW	7	30,155,923 (GRCm39)	missense	probably damaging	1.00
R2226:Kirrel2	UTSW	7	30,153,579 (GRCm39)	missense	probably damaging	1.00
R4818:Kirrel2	UTSW	7	30,149,293 (GRCm39)	missense	probably benign	0.32
R4963:Kirrel2	UTSW	7	30,150,226 (GRCm39)	critical splice donor site	probably null
R6918:Kirrel2	UTSW	7	30,150,239 (GRCm39)	missense	probably damaging	1.00
R6985:Kirrel2	UTSW	7	30,154,731 (GRCm39)	missense	probably damaging	1.00
R6995:Kirrel2	UTSW	7	30,154,604 (GRCm39)	missense	probably damaging	1.00
R7014:Kirrel2	UTSW	7	30,153,999 (GRCm39)	missense	probably benign	0.01
R8254:Kirrel2	UTSW	7	30,149,801 (GRCm39)	critical splice donor site	probably null
R8363:Kirrel2	UTSW	7	30,152,968 (GRCm39)	missense	probably damaging	0.99
R9061:Kirrel2	UTSW	7	30,150,305 (GRCm39)	missense	probably benign	0.00
R9066:Kirrel2	UTSW	7	30,153,454 (GRCm39)	missense	probably damaging	1.00
R9099:Kirrel2	UTSW	7	30,147,642 (GRCm39)	missense	probably benign	0.07
R9445:Kirrel2	UTSW	7	30,150,260 (GRCm39)	missense	probably damaging	0.97
Z1176:Kirrel2	UTSW	7	30,152,882 (GRCm39)	missense	probably benign	0.01
Z1177:Kirrel2	UTSW	7	30,152,171 (GRCm39)	missense	probably benign	0.34
Z1186:Kirrel2	UTSW	7	30,147,622 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGTGAGCCTGCCTCCAAGAAG -3'
(R):5'- TTCCCTGTGCTAGGTGCTGAGC -3'

Sequencing Primer
(F):5'- TTCAAAGTCAGTGAGGAGCCTG -3'
(R):5'- GCGAGGCTGACTGTGAAC -3'

Posted On

2013-06-11