Mutagenetix > Incidental Mutation

Incidental Mutation 'R2010:Kirrel3'

219503

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

040019-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R2010 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34397190-34948012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34850494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 41 (Y41H)

Ref Sequence

ENSEMBL: ENSMUSP00000139714 (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: Y41H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: Y41H

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

probably damaging
Transcript: ENSMUST00000115148
AA Change: Y74H

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

SMART Domains

Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: Y74H

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: Y48H

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: Y48H

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: Y41H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: Y41H

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

probably damaging
Transcript: ENSMUST00000188933
AA Change: Y41H

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

SMART Domains

Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: Y41H

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

probably damaging
Transcript: ENSMUST00000190549
AA Change: Y41H

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

SMART Domains

Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: Y41H

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	G	A	3: 36,535,955 (GRCm39)	G74S	unknown	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Arhgef6	T	C	X: 56,344,865 (GRCm39)	T52A	possibly damaging	Het
Aste1	C	A	9: 105,280,701 (GRCm39)	H25Q	probably damaging	Het
Atp13a1	G	A	8: 70,244,010 (GRCm39)	G36R	possibly damaging	Het
Bahcc1	T	C	11: 120,163,604 (GRCm39)	V634A	probably damaging	Het
Bltp1	T	G	3: 36,982,700 (GRCm39)	N788K	probably benign	Het
C1s1	A	T	6: 124,514,353 (GRCm39)	Y168N	probably damaging	Het
Camsap2	T	C	1: 136,202,606 (GRCm39)	S612G	probably damaging	Het
Cdh23	C	A	10: 60,150,006 (GRCm39)	R2611L	probably damaging	Het
Cfap20dc	A	T	14: 8,511,021 (GRCm38)	F464L	probably damaging	Het
Cilp2	A	G	8: 70,334,344 (GRCm39)	Y885H	probably damaging	Het
Dhrs3	C	T	4: 144,653,758 (GRCm39)	T227I	possibly damaging	Het
Dnah2	A	T	11: 69,349,184 (GRCm39)		probably null	Het
Dnah3	T	G	7: 119,694,400 (GRCm39)	M1L	probably benign	Het
Ehbp1l1	A	G	19: 5,769,311 (GRCm39)	I664T	probably benign	Het
Eif4e	C	T	3: 138,261,219 (GRCm39)	T171I	probably benign	Het
Elfn1	C	T	5: 139,959,071 (GRCm39)	R692W	probably damaging	Het
Eps8l3	T	A	3: 107,786,688 (GRCm39)	M1K	probably null	Het
Evi5	C	A	5: 107,961,411 (GRCm39)		probably null	Het
Fancd2	A	T	6: 113,570,252 (GRCm39)	D1401V	probably damaging	Het
Fat2	G	A	11: 55,144,653 (GRCm39)	R4074C	probably damaging	Het
Fkbp4	A	T	6: 128,412,765 (GRCm39)	V55E	probably benign	Het
Fnip1	A	G	11: 54,373,329 (GRCm39)	D180G	probably damaging	Het
Galc	A	G	12: 98,220,489 (GRCm39)	F126S	possibly damaging	Het
Gdf7	C	T	12: 8,351,729 (GRCm39)	V69M	unknown	Het
Glis2	A	G	16: 4,426,575 (GRCm39)	E22G	probably damaging	Het
H2bc3	G	A	13: 23,931,111 (GRCm39)	V112M	possibly damaging	Het
Hps4	T	A	5: 112,517,342 (GRCm39)	V243E	probably damaging	Het
Ighe	T	A	12: 113,235,108 (GRCm39)	I351F	unknown	Het
Irak4	A	T	15: 94,449,687 (GRCm39)	R55S	probably damaging	Het
Itpr2	G	A	6: 146,129,022 (GRCm39)		probably null	Het
Katnip	A	G	7: 125,472,128 (GRCm39)	I1544M	possibly damaging	Het
Krr1	A	G	10: 111,811,474 (GRCm39)	E56G	possibly damaging	Het
Lgi1	G	A	19: 38,289,683 (GRCm39)	V250I	probably damaging	Het
Lipf	A	G	19: 33,950,946 (GRCm39)	N306D	probably benign	Het
Lman2l	C	T	1: 36,484,262 (GRCm39)	W18*	probably null	Het
Lztfl1	T	A	9: 123,531,251 (GRCm39)	N239I	possibly damaging	Het
Mief1	T	C	15: 80,132,126 (GRCm39)	S66P	possibly damaging	Het
Mmp8	C	A	9: 7,567,535 (GRCm39)	S465*	probably null	Het
Muc2	A	T	7: 141,287,444 (GRCm39)	T208S	probably damaging	Het
Myh8	A	T	11: 67,187,990 (GRCm39)	K921*	probably null	Het
Myh9	T	C	15: 77,656,147 (GRCm39)	E1121G	probably benign	Het
Nbn	T	C	4: 15,969,393 (GRCm39)	S213P	probably damaging	Het
Nol10	A	G	12: 17,466,102 (GRCm39)	E499G	probably benign	Het
Nxn	T	C	11: 76,289,627 (GRCm39)	E87G	probably damaging	Het
Or14c40	A	G	7: 86,313,811 (GRCm39)	T314A	probably benign	Het
Or51f2	T	A	7: 102,526,892 (GRCm39)	C188*	probably null	Het
Or8g23	T	C	9: 38,971,395 (GRCm39)	H189R	probably benign	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,698,819 (GRCm39)		probably benign	Het
Pigk	A	G	3: 152,472,151 (GRCm39)	I354M	probably damaging	Het
Pigl	T	A	11: 62,349,508 (GRCm39)	C75S	probably damaging	Het
Pm20d1	T	A	1: 131,739,852 (GRCm39)	I400N	probably benign	Het
Prkg2	T	A	5: 99,172,664 (GRCm39)	H17L	probably benign	Het
Psmd1	T	A	1: 86,003,719 (GRCm39)	L168Q	probably damaging	Het
Rab3gap2	A	T	1: 185,010,478 (GRCm39)	H1136L	possibly damaging	Het
Rb1	T	C	14: 73,532,433 (GRCm39)	T134A	probably benign	Het
Rims1	T	C	1: 22,367,220 (GRCm39)	E1024G	probably damaging	Het
Rrp12	A	G	19: 41,861,376 (GRCm39)	V977A	probably benign	Het
Rusc2	C	T	4: 43,415,212 (GRCm39)	P173S	probably benign	Het
Selenov	A	T	7: 27,987,447 (GRCm39)	D310E	probably damaging	Het
Serpina3f	T	A	12: 104,183,582 (GRCm39)	L148Q	probably damaging	Het
Slc10a1	C	T	12: 81,007,221 (GRCm39)	V187I	probably benign	Het
Spsb2	A	G	6: 124,787,339 (GRCm39)	K258E	probably damaging	Het
Tas2r105	A	C	6: 131,664,365 (GRCm39)	V21G	probably benign	Het
Tmem229b-ps	T	A	10: 53,351,295 (GRCm39)		noncoding transcript	Het
Tnrc6a	C	G	7: 122,770,269 (GRCm39)	H686Q	probably benign	Het
Trpc2	T	A	7: 101,743,780 (GRCm39)	F715L	probably benign	Het
Ube2t	T	A	1: 134,897,036 (GRCm39)	I56N	probably benign	Het
Ubr4	T	C	4: 139,207,963 (GRCm39)	Y4915H	possibly damaging	Het
Usp32	T	A	11: 84,930,830 (GRCm39)	E533D	probably damaging	Het
Vipr2	T	G	12: 116,086,430 (GRCm39)		probably null	Het
Vmn1r15	A	G	6: 57,235,269 (GRCm39)	T46A	probably benign	Het
Vmn1r203	T	G	13: 22,708,617 (GRCm39)	S133A	possibly damaging	Het
Vmn1r215	T	G	13: 23,260,378 (GRCm39)	N139K	probably damaging	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Wdr20rt	C	A	12: 65,273,988 (GRCm39)	H311N	possibly damaging	Het
Zranb1	T	C	7: 132,568,425 (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
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
R4970:Kirrel3	UTSW	9	34,855,735 (GRCm39)	missense	possibly damaging	0.88
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'- AAGAGGTCTTGAGTCTGGAGTCTC -3'
(R):5'- TCAGGAGAGTTGCAGAGCTG -3'

Sequencing Primer
(F):5'- TGAGTCTGGAGTCTCAAGCCAG -3'
(R):5'- GGCTGGGCATTTGAGTCCC -3'

Posted On

2014-08-25