Incidental Mutation 'R5707:Kirrel3'
| ID |
452024 |
| 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 |
043332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.203)
|
| Stock # |
R5707 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
34397190-34948012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34924572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 286
(K286R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045091]
[ENSMUST00000115148]
[ENSMUST00000187182]
[ENSMUST00000187625]
[ENSMUST00000188658]
[ENSMUST00000188933]
[ENSMUST00000190549]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045091
AA Change: K253R
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: K253R
| 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: K286R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: K286R
| 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: K260R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: K260R
| 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: K253R
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: K253R
| 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 benign
Transcript: ENSMUST00000188658
|
| SMART Domains |
Protein: ENSMUSP00000140086
Gene: ENSMUSG00000032036
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ig_2
|
1 |
31 |
1.4e-1 |
PFAM |
|
IG
|
40 |
132 |
4.5e-5 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188933
AA Change: K253R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: K253R
| 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: K253R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: K253R
| 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 |
0.1317 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (56/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,460,620 (GRCm39) |
L4210P |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,496,622 (GRCm39) |
T518A |
probably damaging |
Het |
| Adgb |
C |
T |
10: 10,267,501 (GRCm39) |
V940I |
probably damaging |
Het |
| Aqp11 |
A |
G |
7: 97,386,635 (GRCm39) |
V187A |
possibly damaging |
Het |
| Arhgef15 |
A |
G |
11: 68,845,541 (GRCm39) |
S104P |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 75,003,399 (GRCm39) |
N4762K |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,509,463 (GRCm39) |
D264G |
probably damaging |
Het |
| Cela3b |
G |
T |
4: 137,152,167 (GRCm39) |
Q97K |
probably damaging |
Het |
| Cenpc1 |
T |
A |
5: 86,183,293 (GRCm39) |
R499W |
possibly damaging |
Het |
| Chct1 |
A |
G |
11: 85,064,138 (GRCm39) |
N93S |
probably benign |
Het |
| Cnr1 |
C |
A |
4: 33,944,330 (GRCm39) |
C239* |
probably null |
Het |
| Col6a2 |
T |
C |
10: 76,446,865 (GRCm39) |
K348E |
possibly damaging |
Het |
| Ctnnb1 |
C |
A |
9: 120,784,234 (GRCm39) |
L368I |
probably benign |
Het |
| Diras1 |
T |
C |
10: 80,857,915 (GRCm39) |
E112G |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,385,050 (GRCm39) |
M332K |
possibly damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,325,563 (GRCm39) |
*747W |
probably null |
Het |
| Dydc2 |
T |
G |
14: 40,783,911 (GRCm39) |
T71P |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,491,698 (GRCm39) |
Y686C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,072 (GRCm39) |
I429N |
probably benign |
Het |
| Gm5114 |
G |
C |
7: 39,060,700 (GRCm39) |
L50V |
probably benign |
Het |
| Gm5121 |
T |
G |
9: 57,241,766 (GRCm39) |
|
noncoding transcript |
Het |
| Kidins220 |
A |
G |
12: 25,063,390 (GRCm39) |
D933G |
probably damaging |
Het |
| Klf5 |
T |
C |
14: 99,538,944 (GRCm39) |
I39T |
probably benign |
Het |
| Krt14 |
C |
T |
11: 100,095,584 (GRCm39) |
V274I |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,054,025 (GRCm39) |
D364G |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,539,082 (GRCm39) |
E1190D |
possibly damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,011,203 (GRCm39) |
E285G |
possibly damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,402,251 (GRCm39) |
T1159M |
probably damaging |
Het |
| Odad4 |
G |
A |
11: 100,444,887 (GRCm39) |
A348T |
probably damaging |
Het |
| Or1af1 |
C |
A |
2: 37,109,901 (GRCm39) |
N133K |
probably benign |
Het |
| Or1e23 |
G |
T |
11: 73,407,451 (GRCm39) |
D191E |
probably damaging |
Het |
| Or2b2b |
A |
G |
13: 21,858,769 (GRCm39) |
L115P |
probably damaging |
Het |
| Pcare |
G |
T |
17: 72,058,567 (GRCm39) |
A370E |
possibly damaging |
Het |
| Pdlim5 |
T |
A |
3: 142,010,060 (GRCm39) |
H294L |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,288,057 (GRCm39) |
D1114E |
probably benign |
Het |
| Phf20 |
T |
G |
2: 156,138,691 (GRCm39) |
|
probably null |
Het |
| Plec |
C |
T |
15: 76,083,871 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
T |
C |
17: 36,178,128 (GRCm39) |
M1T |
probably null |
Het |
| Ppp4r3a |
G |
A |
12: 101,024,770 (GRCm39) |
T243I |
probably damaging |
Het |
| Prss41 |
C |
T |
17: 24,061,390 (GRCm39) |
V134I |
probably benign |
Het |
| Pter |
T |
C |
2: 12,982,991 (GRCm39) |
|
probably benign |
Het |
| Rasgef1b |
T |
G |
5: 99,382,461 (GRCm39) |
K176N |
possibly damaging |
Het |
| Reps1 |
T |
A |
10: 17,931,758 (GRCm39) |
D16E |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,238,397 (GRCm39) |
D73E |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,744,861 (GRCm39) |
T146S |
possibly damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,093,174 (GRCm39) |
W396R |
possibly damaging |
Het |
| Stkld1 |
A |
G |
2: 26,833,999 (GRCm39) |
E162G |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,588,874 (GRCm39) |
F106L |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,193,883 (GRCm39) |
Y340H |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,938,009 (GRCm39) |
I1556V |
possibly damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,288 (GRCm39) |
C113R |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,281,977 (GRCm39) |
F188L |
possibly damaging |
Het |
| Ucn3 |
A |
G |
13: 3,991,556 (GRCm39) |
V32A |
probably benign |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,183 (GRCm39) |
M597K |
possibly damaging |
Het |
| Wdr90 |
A |
G |
17: 26,076,166 (GRCm39) |
V491A |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,255,717 (GRCm39) |
M763K |
possibly damaging |
Het |
| Zfp507 |
G |
T |
7: 35,493,588 (GRCm39) |
A485E |
probably damaging |
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 |
|
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 |
|
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'- TTGTCAAGTGCCTCTGACTG -3'
(R):5'- CACGCAACATGTACACTGTG -3'
Sequencing Primer
(F):5'- GCTTCTCGACCATGGCTCAAAG -3'
(R):5'- GAGTCTAGCTATAGTCTCAGCCAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation