Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Kirrel2'

168313

Institutional Source

Beutler Lab

Gene Symbol

Kirrel2

Ensembl Gene

ENSMUSG00000036915

Gene Name

kirre like nephrin family adhesion molecule 2

Synonyms

C330019F22Rik, NEPH3

MMRRC Submission

039558-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R1511 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

30447534-30457690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30456498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 42 (C42R)

Ref Sequence

ENSEMBL: ENSMUSP00000039395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006825] [ENSMUST00000045817] [ENSMUST00000126297]

AlphaFold

Q7TSU7

Predicted Effect

probably benign
Transcript: ENSMUST00000006825

SMART Domains

Protein: ENSMUSP00000006825
Gene: ENSMUSG00000006649

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	52	146	1.38e-6	SMART
Pfam:C2-set_2	152	242	4.1e-20	PFAM
IG	264	351	9.86e-3	SMART
IG_like	360	452	2.73e1	SMART
IG	464	556	2.99e-2	SMART
IG_like	572	644	8.9e-1	SMART
IG	667	751	1.32e-3	SMART
IG	760	849	7.3e-6	SMART
IGc2	868	941	5.4e-9	SMART
FN3	955	1036	1.01e-11	SMART
transmembrane domain	1078	1100	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000045817
AA Change: C42R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915
AA Change: C42R

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

probably benign
Transcript: ENSMUST00000126297

SMART Domains

Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649

Domain	Start	End	E-Value	Type
IG	38	132	1.38e-6	SMART

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

Validation Efficiency

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977 (GRCm38)	N576K	probably benign	Het
Abca5	T	A	11: 110,299,986 (GRCm38)	H766L	possibly damaging	Het
Abca5	G	T	11: 110,299,978 (GRCm38)	L769M	probably damaging	Het
Acvr1c	A	G	2: 58,287,884 (GRCm38)	I191T	probably damaging	Het
Agps	A	T	2: 75,866,779 (GRCm38)	E314D	probably damaging	Het
Agxt	G	A	1: 93,135,768 (GRCm38)	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746 (GRCm38)	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277 (GRCm38)	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185 (GRCm38)	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161 (GRCm38)	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097 (GRCm38)	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,217,782 (GRCm38)	L695P	probably damaging	Het
Baz2b	A	T	2: 59,962,024 (GRCm38)	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958 (GRCm38)	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703 (GRCm38)	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169 (GRCm38)	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558 (GRCm38)	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552 (GRCm38)	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788 (GRCm38)		probably benign	Het
Cr2	T	G	1: 195,155,272 (GRCm38)	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112 (GRCm38)	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250 (GRCm38)		probably benign	Het
Cxcr1	T	C	1: 74,192,770 (GRCm38)	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936 (GRCm38)	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727 (GRCm38)	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278 (GRCm38)	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477 (GRCm38)	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374 (GRCm38)	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664 (GRCm38)	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281 (GRCm38)	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919 (GRCm38)	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076 (GRCm38)	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285 (GRCm38)	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469 (GRCm38)		noncoding transcript	Het
Galm	C	A	17: 80,183,267 (GRCm38)	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,159,102 (GRCm38)	S735T	probably benign	Het
Hsph1	A	T	5: 149,630,383 (GRCm38)	S207T	probably benign	Het
Il33	C	T	19: 29,955,215 (GRCm38)	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148 (GRCm38)	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324 (GRCm38)		probably null	Het
Letm1	A	C	5: 33,752,555 (GRCm38)	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484 (GRCm38)	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025 (GRCm38)	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670 (GRCm38)	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278 (GRCm38)	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529 (GRCm38)	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664 (GRCm38)	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822 (GRCm38)		probably null	Het
Nckap1	T	C	2: 80,553,415 (GRCm38)	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170 (GRCm38)	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,413,347 (GRCm38)	D143V	probably damaging	Het
Olfr1225	A	G	2: 89,170,937 (GRCm38)	S92P	probably damaging	Het
Olfr1241	T	C	2: 89,482,248 (GRCm38)	M296V	probably null	Het
Olfr1311	A	G	2: 112,021,404 (GRCm38)	V150A	probably benign	Het
Olfr146	T	C	9: 39,019,025 (GRCm38)	D172G	probably benign	Het
Olfr307	T	C	7: 86,336,345 (GRCm38)	D17G	possibly damaging	Het
Olfr32	A	G	2: 90,138,404 (GRCm38)	V245A	probably benign	Het
Olfr548-ps1	T	C	7: 102,542,125 (GRCm38)	L63P	probably damaging	Het
Olfr907	A	G	9: 38,498,818 (GRCm38)	I50V	probably benign	Het
Parp14	T	G	16: 35,857,224 (GRCm38)	E791D	probably benign	Het
Pcdh8	C	T	14: 79,769,389 (GRCm38)	R578H	possibly damaging	Het
Phrf1	T	A	7: 141,259,801 (GRCm38)		probably benign	Het
Polr3b	C	A	10: 84,680,385 (GRCm38)	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859 (GRCm38)	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460 (GRCm38)	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982 (GRCm38)	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,197,005 (GRCm38)	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,972,130 (GRCm38)	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748 (GRCm38)	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634 (GRCm38)	S198P	probably damaging	Het
Rbm12	A	T	2: 156,097,536 (GRCm38)	M272K	probably damaging	Het
Rexo1	T	G	10: 80,550,050 (GRCm38)	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,731,347 (GRCm38)	S384P	probably benign	Het
Rpsa	A	T	9: 120,131,000 (GRCm38)	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952 (GRCm38)	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813 (GRCm38)	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734 (GRCm38)		probably null	Het
Sidt2	A	G	9: 45,950,089 (GRCm38)	V19A	probably damaging	Het
Snx14	G	A	9: 88,398,364 (GRCm38)	Q522*	probably null	Het
Stx1b	A	G	7: 127,814,972 (GRCm38)	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878 (GRCm38)	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975 (GRCm38)	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951 (GRCm38)	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452 (GRCm38)	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184 (GRCm38)		probably null	Het
Txk	A	C	5: 72,707,671 (GRCm38)	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887 (GRCm38)	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301 (GRCm38)		probably null	Het
Ubtfl1	T	G	9: 18,410,193 (GRCm38)	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505 (GRCm38)	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653 (GRCm38)	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786 (GRCm38)	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270 (GRCm38)	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496 (GRCm38)	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801 (GRCm38)	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975 (GRCm38)	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573 (GRCm38)	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675 (GRCm38)	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433 (GRCm38)	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972 (GRCm38)	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771 (GRCm38)	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731 (GRCm38)	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256 (GRCm38)	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793 (GRCm38)	V430E	probably damaging	Het

Other mutations in Kirrel2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Kirrel2	APN	7	30,453,664 (GRCm38)	missense	probably benign	0.03
IGL02457:Kirrel2	APN	7	30,452,740 (GRCm38)	missense	probably damaging	1.00
IGL02609:Kirrel2	APN	7	30,448,340 (GRCm38)	missense	probably benign	0.00
R0029:Kirrel2	UTSW	7	30,453,165 (GRCm38)	unclassified	probably benign
R0395:Kirrel2	UTSW	7	30,450,458 (GRCm38)	missense	possibly damaging	0.68
R0987:Kirrel2	UTSW	7	30,448,130 (GRCm38)	missense	probably damaging	1.00
R2226:Kirrel2	UTSW	7	30,454,154 (GRCm38)	missense	probably damaging	1.00
R4818:Kirrel2	UTSW	7	30,449,868 (GRCm38)	missense	probably benign	0.32
R4963:Kirrel2	UTSW	7	30,450,801 (GRCm38)	critical splice donor site	probably null
R6918:Kirrel2	UTSW	7	30,450,814 (GRCm38)	missense	probably damaging	1.00
R6985:Kirrel2	UTSW	7	30,455,306 (GRCm38)	missense	probably damaging	1.00
R6995:Kirrel2	UTSW	7	30,455,179 (GRCm38)	missense	probably damaging	1.00
R7014:Kirrel2	UTSW	7	30,454,574 (GRCm38)	missense	probably benign	0.01
R8254:Kirrel2	UTSW	7	30,450,376 (GRCm38)	critical splice donor site	probably null
R8363:Kirrel2	UTSW	7	30,453,543 (GRCm38)	missense	probably damaging	0.99
R9061:Kirrel2	UTSW	7	30,450,880 (GRCm38)	missense	probably benign	0.00
R9066:Kirrel2	UTSW	7	30,454,029 (GRCm38)	missense	probably damaging	1.00
R9099:Kirrel2	UTSW	7	30,448,217 (GRCm38)	missense	probably benign	0.07
R9445:Kirrel2	UTSW	7	30,450,835 (GRCm38)	missense	probably damaging	0.97
Z1176:Kirrel2	UTSW	7	30,453,457 (GRCm38)	missense	probably benign	0.01
Z1177:Kirrel2	UTSW	7	30,452,746 (GRCm38)	missense	probably benign	0.34
Z1186:Kirrel2	UTSW	7	30,448,197 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTCAGGAGTCTGTCACTCTCCAAAG -3'
(R):5'- CCATTACAGCCCTGTTTGGGAGAAG -3'

Sequencing Primer
(F):5'- GTTGAAATCAGTGCAGCCC -3'
(R):5'- CCCTGTTTGGGAGAAGGAGAC -3'

Posted On

2014-04-13