Mutagenetix > Incidental Mutation

Incidental Mutation 'R4970:Kirrel3'

384389

Institutional Source

Beutler Lab

Gene Symbol

Kirrel3

Ensembl Gene

ENSMUSG00000032036

Gene Name

kirre like nephrin family adhesion molecule 3

Synonyms

2900036G11Rik, Neph2, 1500010O20Rik

MMRRC Submission

042565-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R4970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34397190-34948012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34855735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 92 (E92G)

Ref Sequence

ENSEMBL: ENSMUSP00000140219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045091] [ENSMUST00000115148] [ENSMUST00000187182] [ENSMUST00000187625] [ENSMUST00000188933] [ENSMUST00000190549]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045091
AA Change: E85G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: E85G

Domain	Start	End	E-Value	Type
IG	21	111	1.35e-9	SMART
IG	122	214	2.56e-1	SMART
Pfam:Ig_2	217	298	2.1e-6	PFAM
IGc2	314	372	1.66e-9	SMART
IG	392	484	1.06e-2	SMART
transmembrane domain	491	513	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
low complexity region	700	717	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115148
AA Change: E118G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: E118G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	54	144	1.35e-9	SMART
IG	155	247	2.56e-1	SMART
Pfam:Ig_3	249	318	7.2e-6	PFAM
IGc2	347	405	1.66e-9	SMART
IG	425	517	1.06e-2	SMART
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	601	614	N/A	INTRINSIC
low complexity region	733	750	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187182
AA Change: E92G

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: E92G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	28	118	1.35e-9	SMART
IG	129	221	2.56e-1	SMART
Pfam:Ig_2	224	305	2.3e-6	PFAM
IGc2	321	379	1.66e-9	SMART
IG	399	491	1.06e-2	SMART
transmembrane domain	510	532	N/A	INTRINSIC
low complexity region	612	625	N/A	INTRINSIC
low complexity region	744	761	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187625
AA Change: E85G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: E85G

Domain	Start	End	E-Value	Type
IG	21	111	1.35e-9	SMART
IG	122	214	2.56e-1	SMART
Pfam:Ig_2	217	298	2.1e-6	PFAM
IGc2	314	372	1.66e-9	SMART
IG	392	484	1.06e-2	SMART
transmembrane domain	491	513	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
low complexity region	700	717	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188933
AA Change: E85G

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: E85G

Domain	Start	End	E-Value	Type
IG	21	111	5.7e-12	SMART
IG	122	214	1.1e-3	SMART
Pfam:Ig_2	217	298	3.7e-5	PFAM
IGc2	314	372	6.8e-12	SMART
IG	392	484	4.5e-5	SMART
transmembrane domain	503	525	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	712	729	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190549
AA Change: E85G

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: E85G

Domain	Start	End	E-Value	Type
IG	21	111	5.7e-12	SMART
IG	122	214	1.1e-3	SMART
Pfam:Ig_2	217	298	2.6e-5	PFAM
IGc2	314	372	6.8e-12	SMART
IG	392	484	4.5e-5	SMART
transmembrane domain	491	513	N/A	INTRINSIC

Meta Mutation Damage Score

0.1796

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (114/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired accessory olfactory bulb formation with reduced coalescence of vomeronasal sensory neuron axons in the posterior accessory olfactory bulb, loss of male-male aggression and abnormal male sexual response to a male intruder mouse. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,222,066 (GRCm39)		noncoding transcript	Het
Aars1	A	G	8: 111,770,311 (GRCm39)	M370V	probably benign	Het
Abca2	A	G	2: 25,328,383 (GRCm39)	K846R	probably damaging	Het
Acad9	A	T	3: 36,139,674 (GRCm39)	I425F	probably damaging	Het
Adhfe1	C	A	1: 9,628,463 (GRCm39)	D278E	possibly damaging	Het
Afg3l1	G	A	8: 124,225,392 (GRCm39)	V532I	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano7	G	A	1: 93,325,085 (GRCm39)	V546M	possibly damaging	Het
Aox1	G	A	1: 58,349,254 (GRCm39)		probably null	Het
Asah1	G	T	8: 41,813,314 (GRCm39)	S33*	probably null	Het
Astn1	C	T	1: 158,484,763 (GRCm39)	S15F	possibly damaging	Het
Bag4	A	T	8: 26,261,272 (GRCm39)	Y156*	probably null	Het
Bmpr1b	T	C	3: 141,550,948 (GRCm39)	E381G	probably damaging	Het
Btnl7-ps	A	G	17: 34,756,092 (GRCm39)		noncoding transcript	Het
Caap1	A	T	4: 94,409,297 (GRCm39)		probably null	Het
Card10	C	T	15: 78,686,580 (GRCm39)		probably null	Het
Ccp110	T	C	7: 118,321,614 (GRCm39)	V423A	possibly damaging	Het
Cdc123	A	G	2: 5,809,748 (GRCm39)	L221P	possibly damaging	Het
Cdh19	A	G	1: 110,882,354 (GRCm39)	V46A	possibly damaging	Het
Cfap57	A	G	4: 118,477,568 (GRCm39)	F12S	probably damaging	Het
Clvs1	A	G	4: 9,350,857 (GRCm39)		probably benign	Het
Dgkh	A	T	14: 78,856,077 (GRCm39)	V199E	probably damaging	Het
Dhx32	T	A	7: 133,340,384 (GRCm39)		probably benign	Het
Dpf3	G	T	12: 83,417,385 (GRCm39)	S29*	probably null	Het
Efcab7	C	A	4: 99,719,780 (GRCm39)	S87R	probably damaging	Het
Fam81a	G	A	9: 70,000,872 (GRCm39)	Q291*	probably null	Het
Fbxo41	G	T	6: 85,454,906 (GRCm39)	N667K	probably damaging	Het
Flacc1	T	C	1: 58,698,441 (GRCm39)	T326A	probably benign	Het
Gm10313	A	T	8: 46,708,462 (GRCm39)		noncoding transcript	Het
Gm28051	G	A	12: 102,686,430 (GRCm39)	Q77*	probably null	Het
Gm5535	T	A	2: 144,016,569 (GRCm39)		noncoding transcript	Het
Gtf2ird1	A	T	5: 134,431,038 (GRCm39)	D339E	probably damaging	Het
Gvin3	A	T	7: 106,199,864 (GRCm39)		noncoding transcript	Het
Igfbp7	A	G	5: 77,555,608 (GRCm39)	M85T	possibly damaging	Het
Il20ra	A	G	10: 19,634,691 (GRCm39)	T311A	possibly damaging	Het
Il24	T	C	1: 130,811,179 (GRCm39)		probably null	Het
Itch	T	C	2: 155,027,513 (GRCm39)	F379L	possibly damaging	Het
Itgad	T	A	7: 127,789,015 (GRCm39)	V488D	possibly damaging	Het
Itpr2	A	T	6: 146,135,489 (GRCm39)	M1814K	possibly damaging	Het
Lpin2	T	C	17: 71,538,329 (GRCm39)	V325A	probably damaging	Het
Lrba	C	T	3: 86,132,678 (GRCm39)	T28M	probably benign	Het
Lrch3	T	C	16: 32,818,883 (GRCm39)	Y661H	probably damaging	Het
Lrfn5	C	A	12: 61,886,461 (GRCm39)	S83Y	probably damaging	Het
Lrp1	A	C	10: 127,375,389 (GRCm39)	L4435R	probably benign	Het
Lrrn1	A	G	6: 107,546,305 (GRCm39)	D701G	probably benign	Het
Map4k3	A	T	17: 80,961,332 (GRCm39)	Y125N	probably benign	Het
Mau2	A	T	8: 70,480,353 (GRCm39)	H273Q	possibly damaging	Het
Med16	A	C	10: 79,742,871 (GRCm39)		probably null	Het
Mmp17	A	G	5: 129,679,229 (GRCm39)	H376R	possibly damaging	Het
Nlrp12	G	A	7: 3,289,613 (GRCm39)	H300Y	possibly damaging	Het
Nlrp3	A	T	11: 59,439,554 (GRCm39)	Y377F	probably damaging	Het
Notch2	T	C	3: 98,008,952 (GRCm39)		probably null	Het
Nudcd1	A	T	15: 44,240,039 (GRCm39)	C500*	probably null	Het
Or52z14	T	C	7: 103,253,197 (GRCm39)	I112T	probably damaging	Het
Or5d37	A	G	2: 87,923,353 (GRCm39)	V309A	probably damaging	Het
Or6b6	T	A	7: 106,570,778 (GRCm39)	M258L	probably benign	Het
Or8g23	A	T	9: 38,971,827 (GRCm39)	M45K	probably benign	Het
Or8h9	A	T	2: 86,789,698 (GRCm39)	Y35N	probably damaging	Het
Pcdhb20	T	A	18: 37,639,824 (GRCm39)	N783K	probably benign	Het
Pclo	T	A	5: 14,727,896 (GRCm39)		probably benign	Het
Pdyn	T	A	2: 129,530,021 (GRCm39)	D216V	probably damaging	Het
Phldb3	A	T	7: 24,324,110 (GRCm39)	I495F	possibly damaging	Het
Pmpca	A	T	2: 26,285,178 (GRCm39)	I468F	probably damaging	Het
Pmpcb	G	A	5: 21,961,441 (GRCm39)	R399H	probably damaging	Het
Polrmt	G	T	10: 79,572,421 (GRCm39)	H1145N	probably damaging	Het
Proser1	A	G	3: 53,371,727 (GRCm39)	D11G	probably damaging	Het
Ptprc	A	G	1: 138,022,037 (GRCm39)	S544P	probably damaging	Het
Ptprn2	G	A	12: 117,240,215 (GRCm39)	E991K	probably damaging	Het
Pwp2	A	C	10: 78,009,527 (GRCm39)	L797R	possibly damaging	Het
Rbm20	G	A	19: 53,840,100 (GRCm39)	A1030T	probably damaging	Het
Rdh7	T	C	10: 127,721,691 (GRCm39)	Y195C	probably benign	Het
Rev3l	T	A	10: 39,699,326 (GRCm39)	D1274E	probably benign	Het
Scfd2	G	T	5: 74,366,982 (GRCm39)	H639Q	probably benign	Het
Sell	T	A	1: 163,892,887 (GRCm39)	H34Q	possibly damaging	Het
Senp8	A	C	9: 59,644,504 (GRCm39)	D204E	probably benign	Het
Setd2	A	G	9: 110,377,226 (GRCm39)	D347G	probably benign	Het
Sh2b1	T	A	7: 126,067,975 (GRCm39)	R560W	probably damaging	Het
Slc36a3	T	A	11: 55,039,399 (GRCm39)	K76N	probably damaging	Het
Slc6a9	A	T	4: 117,713,205 (GRCm39)	Y60F	probably damaging	Het
Slfn10-ps	C	T	11: 82,921,207 (GRCm39)		noncoding transcript	Het
Spata31d1d	G	A	13: 59,875,334 (GRCm39)	H734Y	probably benign	Het
Spmip10	G	T	18: 56,725,494 (GRCm39)	M46I	possibly damaging	Het
Spsb1	T	A	4: 149,991,612 (GRCm39)		probably benign	Het
Sptbn5	T	A	2: 119,882,258 (GRCm39)		noncoding transcript	Het
Sugp2	G	A	8: 70,712,462 (GRCm39)	V1026I	possibly damaging	Het
Syt14	T	A	1: 192,613,285 (GRCm39)		probably benign	Het
Sytl1	G	A	4: 132,982,893 (GRCm39)	Q373*	probably null	Het
Trim38	T	A	13: 23,975,312 (GRCm39)	L417Q	probably damaging	Het
Ttll1	T	C	15: 83,380,597 (GRCm39)	H256R	probably damaging	Het
Ttyh2	A	T	11: 114,587,583 (GRCm39)	T195S	probably benign	Het
Unc119b	A	G	5: 115,263,553 (GRCm39)	L217P	probably damaging	Het
Usp6nl	A	G	2: 6,425,714 (GRCm39)	K152E	probably benign	Het
Vcam1	T	C	3: 115,910,941 (GRCm39)	R486G	probably benign	Het
Vmn1r225	G	A	17: 20,722,831 (GRCm39)	G91S	possibly damaging	Het
Vmn2r1	A	C	3: 63,997,544 (GRCm39)	Q400P	possibly damaging	Het
Vmn2r87	A	T	10: 130,314,422 (GRCm39)	L388Q	probably damaging	Het
Wnk1	A	T	6: 119,942,696 (GRCm39)		probably benign	Het
Zfp239	A	G	6: 117,847,478 (GRCm39)		probably benign	Het
Zfp688	T	C	7: 127,018,327 (GRCm39)	Y266C	probably damaging	Het
Zfp850	A	T	7: 27,689,658 (GRCm39)	C183*	probably null	Het
Zscan29	T	C	2: 120,999,676 (GRCm39)		probably null	Het

Other mutations in Kirrel3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Kirrel3	APN	9	34,926,549 (GRCm39)	critical splice acceptor site	probably null
IGL01369:Kirrel3	APN	9	34,927,737 (GRCm39)	missense	probably benign	0.07
IGL01837:Kirrel3	APN	9	34,946,224 (GRCm39)	missense	probably damaging	1.00
IGL01950:Kirrel3	APN	9	34,939,625 (GRCm39)	splice site	probably benign
IGL01973:Kirrel3	APN	9	34,927,764 (GRCm39)	missense	probably damaging	1.00
IGL01994:Kirrel3	APN	9	34,931,429 (GRCm39)	missense	possibly damaging	0.71
IGL03184:Kirrel3	APN	9	34,919,052 (GRCm39)	missense	probably damaging	1.00
R0033:Kirrel3	UTSW	9	34,912,259 (GRCm39)	missense	probably benign	0.06
R0033:Kirrel3	UTSW	9	34,912,259 (GRCm39)	missense	probably benign	0.06
R0038:Kirrel3	UTSW	9	34,823,066 (GRCm39)	splice site	probably null
R0038:Kirrel3	UTSW	9	34,823,066 (GRCm39)	splice site	probably null
R0390:Kirrel3	UTSW	9	34,931,459 (GRCm39)	missense	probably damaging	1.00
R0627:Kirrel3	UTSW	9	34,946,470 (GRCm39)	missense	probably damaging	1.00
R0786:Kirrel3	UTSW	9	34,946,161 (GRCm39)	missense	probably damaging	1.00
R0920:Kirrel3	UTSW	9	34,939,648 (GRCm39)	missense	probably damaging	1.00
R0962:Kirrel3	UTSW	9	34,912,293 (GRCm39)	missense	possibly damaging	0.95
R1716:Kirrel3	UTSW	9	34,934,843 (GRCm39)	missense	probably damaging	1.00
R2010:Kirrel3	UTSW	9	34,850,494 (GRCm39)	missense	probably damaging	1.00
R4289:Kirrel3	UTSW	9	34,934,769 (GRCm39)	missense	probably benign	0.44
R4888:Kirrel3	UTSW	9	34,924,601 (GRCm39)	missense	probably damaging	1.00
R5121:Kirrel3	UTSW	9	34,924,601 (GRCm39)	missense	probably damaging	1.00
R5368:Kirrel3	UTSW	9	34,919,034 (GRCm39)	missense	probably damaging	1.00
R5572:Kirrel3	UTSW	9	34,912,244 (GRCm39)	missense	probably damaging	1.00
R5707:Kirrel3	UTSW	9	34,924,572 (GRCm39)	missense	probably damaging	1.00
R6302:Kirrel3	UTSW	9	34,919,045 (GRCm39)	missense	probably damaging	1.00
R6449:Kirrel3	UTSW	9	34,902,269 (GRCm39)	missense	probably benign
R6908:Kirrel3	UTSW	9	34,924,697 (GRCm39)	missense	possibly damaging	0.86
R6967:Kirrel3	UTSW	9	34,946,202 (GRCm39)	missense	probably damaging	1.00
R7578:Kirrel3	UTSW	9	34,850,408 (GRCm39)	missense	probably damaging	1.00
R7861:Kirrel3	UTSW	9	34,931,419 (GRCm39)	missense	possibly damaging	0.79
R8094:Kirrel3	UTSW	9	34,946,460 (GRCm39)	missense	probably damaging	1.00
R8383:Kirrel3	UTSW	9	34,941,179 (GRCm39)	missense	probably null	0.89
R8494:Kirrel3	UTSW	9	34,902,341 (GRCm39)	missense	probably benign	0.03
R8878:Kirrel3	UTSW	9	34,850,561 (GRCm39)	splice site	probably benign
R8955:Kirrel3	UTSW	9	34,855,738 (GRCm39)	missense	probably damaging	1.00
R9140:Kirrel3	UTSW	9	34,924,596 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGCCACTGTTCACTAGATG -3'
(R):5'- AAAGGTGAGCCTCCCATGAC -3'

Sequencing Primer
(F):5'- GCAAGGGAGATTTCTTTTTAAGCC -3'
(R):5'- TGACAAGCTCTGTAGAAGGACTCTC -3'

Posted On

2016-04-27