Mutagenetix > Incidental Mutation

Incidental Mutation 'R8955:Kirrel3'

681938

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R8955 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34485894-35036716 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34944442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 86 (L86P)

Ref Sequence

ENSEMBL: ENSMUSP00000139418 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045091
AA Change: L86P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: L86P

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: L119P

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

SMART Domains

Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: L119P

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

probably damaging
Transcript: ENSMUST00000187182
AA Change: L93P

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

SMART Domains

Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: L93P

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

possibly damaging
Transcript: ENSMUST00000187625
AA Change: L86P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: L86P

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: L86P

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

SMART Domains

Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: L86P

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

SMART Domains

Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: L86P

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,704,705	V1003I	possibly damaging	Het
Adgra3	T	A	5: 49,961,389	Y939F	probably benign	Het
Adra2b	T	C	2: 127,363,584	V2A	probably benign	Het
Aga	T	A	8: 53,521,129	Y296N	possibly damaging	Het
Apc	A	G	18: 34,268,317	Q52R	probably damaging	Het
Arfgef1	A	T	1: 10,199,837	S362R	probably benign	Het
Arhgef7	C	T	8: 11,758,451		probably benign	Het
Bmp5	A	T	9: 75,898,553	M446L	probably damaging	Het
Carmil3	C	T	14: 55,496,077	T350I	probably damaging	Het
Cd44	T	A	2: 102,853,018	T224S	probably damaging	Het
Cep112	A	T	11: 108,752,434	I7F	possibly damaging	Het
Chrna2	G	A	14: 66,142,232	A7T	probably benign	Het
Cldn16	G	A	16: 26,482,520	V193I	probably benign	Het
Clec4a3	G	A	6: 122,966,520	E100K	possibly damaging	Het
Cntln	C	T	4: 85,067,873	T1026I	possibly damaging	Het
Cyp4v3	T	A	8: 45,308,527	I420F	probably benign	Het
Dcbld2	G	A	16: 58,450,762	A301T		Het
Dnah1	A	T	14: 31,285,993	D2152E	probably benign	Het
Dpy19l4	A	G	4: 11,290,195	V179A	probably benign	Het
Dusp4	T	A	8: 34,817,308	I259N	probably damaging	Het
Enpp1	T	A	10: 24,669,028	I318F	probably benign	Het
Entpd6	T	C	2: 150,753,085	V15A	possibly damaging	Het
Epb41l1	C	G	2: 156,522,003	Q811E	probably benign	Het
Epb41l5	T	C	1: 119,642,562	H32R	probably damaging	Het
Fam135b	C	T	15: 71,462,214	V1044I	possibly damaging	Het
Fat4	A	T	3: 38,983,629	H3810L	probably benign	Het
Fbxw28	T	A	9: 109,338,789		probably null	Het
Flnb	T	G	14: 7,892,874	V648G	probably damaging	Het
Flnb	T	A	14: 7,904,688	Y1030*	probably null	Het
Fndc3a	T	C	14: 72,556,970	T787A	probably benign	Het
Gli2	T	A	1: 118,855,457	H106L	probably damaging	Het
Gm10283	T	A	8: 60,501,356		probably null	Het
Gm3336	C	T	8: 70,721,896	R67*	probably null	Het
Gsr	T	G	8: 33,693,908	I399M	possibly damaging	Het
Gtf2ird2	T	A	5: 134,216,754	M618K	probably damaging	Het
Gtf3c3	T	A	1: 54,423,563	D347V	probably benign	Het
H2afy2	A	T	10: 61,757,831	I22N	probably damaging	Het
Hspa12a	T	C	19: 58,799,626	Y588C	probably damaging	Het
Il20ra	A	G	10: 19,759,412	E467G	possibly damaging	Het
Inf2	A	G	12: 112,610,564	I991V	unknown	Het
Irx6	T	C	8: 92,678,412	C303R	probably damaging	Het
Kcnmb4	T	A	10: 116,473,476	K16*	probably null	Het
Lipo5	A	C	19: 33,473,130	F21V		Het
Lrmp	A	T	6: 145,171,664	M376L	probably benign	Het
Lrrc31	T	A	3: 30,679,118	R482S	probably benign	Het
Lrrc3b	C	T	14: 15,358,159	C149Y	probably damaging	Het
Lrrk1	A	G	7: 66,269,825	M446T	probably benign	Het
Mettl14	C	T	3: 123,374,044	D222N	probably benign	Het
Mfsd4b3	G	A	10: 39,948,076	H63Y	probably benign	Het
Myo16	T	C	8: 10,376,175	W311R	probably damaging	Het
Nccrp1	A	T	7: 28,546,203	N151K	probably benign	Het
Obsl1	T	C	1: 75,503,849	D377G	probably damaging	Het
Olfr1356	G	T	10: 78,847,742	P58T	probably damaging	Het
Olfr1447	T	A	19: 12,901,214	T189S	probably benign	Het
Olfr371	T	A	8: 85,231,284	I263N	probably benign	Het
Olfr508	T	A	7: 108,630,299	C102*	probably null	Het
Pigb	T	C	9: 73,038,701	N63S	probably damaging	Het
Plch2	T	C	4: 154,992,566	E577G	probably benign	Het
Prkab2	T	C	3: 97,666,627	V194A	probably benign	Het
Psd3	T	C	8: 67,963,809	I479V	probably benign	Het
Ralgapb	C	A	2: 158,437,344	P117T	probably benign	Het
Ralgapb	C	G	2: 158,495,469	T1116R	probably damaging	Het
Rpap2	T	A	5: 107,620,495	S400T	possibly damaging	Het
Rpgrip1l	C	A	8: 91,280,828	W378L	possibly damaging	Het
Rps20	T	A	4: 3,834,617	M82L	probably benign	Het
Rps5	T	C	7: 12,925,513	M77T	possibly damaging	Het
Scaf11	A	G	15: 96,420,490	S398P	probably damaging	Het
Sdf2	T	A	11: 78,254,937	D153E	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Slc12a9	T	C	5: 137,331,008	N128S	probably damaging	Het
Slc25a32	C	A	15: 39,097,551	G246C	probably damaging	Het
Slc38a4	C	T	15: 97,016,781	A64T	probably benign	Het
Slit3	T	C	11: 35,698,380	V1254A	probably damaging	Het
Slx4	T	C	16: 3,990,247	K481R	probably benign	Het
Tcea1	A	G	1: 4,889,509	T136A	probably benign	Het
Thra	A	G	11: 98,753,623	D13G	possibly damaging	Het
Tmed9	G	A	13: 55,596,962	S227N	probably benign	Het
Trim80	C	A	11: 115,440,712	T20K	probably benign	Het
Trmt61a	G	T	12: 111,682,822	V276L	probably benign	Het
Trpc4ap	T	C	2: 155,666,251	D160G	possibly damaging	Het
Ubr5	C	T	15: 38,029,581	E467K		Het
Vars2	C	A	17: 35,661,649	G26W	probably damaging	Het
Vmn1r226	G	T	17: 20,688,025	R173L	possibly damaging	Het
Vmn1r29	G	T	6: 58,307,299	M1I	probably null	Het
Vmn2r3	G	T	3: 64,261,382	P578Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,400,147	I726N	possibly damaging	Het
Zfp39	A	T	11: 58,890,120	Y605*	probably null	Het

Other mutations in Kirrel3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Kirrel3	APN	9	35015253	critical splice acceptor site	probably null
IGL01369:Kirrel3	APN	9	35016441	missense	probably benign	0.07
IGL01837:Kirrel3	APN	9	35034928	missense	probably damaging	1.00
IGL01950:Kirrel3	APN	9	35028329	splice site	probably benign
IGL01973:Kirrel3	APN	9	35016468	missense	probably damaging	1.00
IGL01994:Kirrel3	APN	9	35020133	missense	possibly damaging	0.71
IGL03184:Kirrel3	APN	9	35007756	missense	probably damaging	1.00
R0033:Kirrel3	UTSW	9	35000963	missense	probably benign	0.06
R0033:Kirrel3	UTSW	9	35000963	missense	probably benign	0.06
R0038:Kirrel3	UTSW	9	34911770	splice site	probably null
R0038:Kirrel3	UTSW	9	34911770	splice site	probably null
R0390:Kirrel3	UTSW	9	35020163	missense	probably damaging	1.00
R0627:Kirrel3	UTSW	9	35035174	missense	probably damaging	1.00
R0786:Kirrel3	UTSW	9	35034865	missense	probably damaging	1.00
R0920:Kirrel3	UTSW	9	35028352	missense	probably damaging	1.00
R0962:Kirrel3	UTSW	9	35000997	missense	possibly damaging	0.95
R1716:Kirrel3	UTSW	9	35023547	missense	probably damaging	1.00
R2010:Kirrel3	UTSW	9	34939198	missense	probably damaging	1.00
R4289:Kirrel3	UTSW	9	35023473	missense	probably benign	0.44
R4888:Kirrel3	UTSW	9	35013305	missense	probably damaging	1.00
R4970:Kirrel3	UTSW	9	34944439	missense	possibly damaging	0.88
R5121:Kirrel3	UTSW	9	35013305	missense	probably damaging	1.00
R5368:Kirrel3	UTSW	9	35007738	missense	probably damaging	1.00
R5572:Kirrel3	UTSW	9	35000948	missense	probably damaging	1.00
R5707:Kirrel3	UTSW	9	35013276	missense	probably damaging	1.00
R6302:Kirrel3	UTSW	9	35007749	missense	probably damaging	1.00
R6449:Kirrel3	UTSW	9	34990973	missense	probably benign
R6908:Kirrel3	UTSW	9	35013401	missense	possibly damaging	0.86
R6967:Kirrel3	UTSW	9	35034906	missense	probably damaging	1.00
R7578:Kirrel3	UTSW	9	34939112	missense	probably damaging	1.00
R7861:Kirrel3	UTSW	9	35020123	missense	possibly damaging	0.79
R8094:Kirrel3	UTSW	9	35035164	missense	probably damaging	1.00
R8383:Kirrel3	UTSW	9	35029883	missense	probably null	0.89
R8494:Kirrel3	UTSW	9	34991045	missense	probably benign	0.03
R8878:Kirrel3	UTSW	9	34939265	splice site	probably benign
R9140:Kirrel3	UTSW	9	35013300	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGAGCCACTGTTCACTAG -3'
(R):5'- CTCCCATGACAAGCTCTGTAG -3'

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

Posted On

2021-08-31