Mutagenetix > Incidental Mutation

Incidental Mutation 'R6705:Nav2'

528896

Institutional Source

Beutler Lab

Gene Symbol

Nav2

Ensembl Gene

ENSMUSG00000052512

Gene Name

neuron navigator 2

Synonyms

Rainb1, Unc53H2, 5330421F07Rik, POMFIL2, HELAD1, RAINB2

MMRRC Submission

044823-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.550) question?

Stock #

R6705 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48608796-49259838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49201664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1413 (S1413P)

Ref Sequence

ENSEMBL: ENSMUSP00000139045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064395] [ENSMUST00000183659] [ENSMUST00000184109] [ENSMUST00000184945]

AlphaFold

E9Q842

Predicted Effect

probably damaging
Transcript: ENSMUST00000064395
AA Change: S1413P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067448
Gene: ENSMUSG00000052512
AA Change: S1413P

Domain	Start	End	E-Value	Type
CH	84	187	1.58e-13	SMART
low complexity region	202	210	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
low complexity region	337	348	N/A	INTRINSIC
low complexity region	412	424	N/A	INTRINSIC
coiled coil region	486	516	N/A	INTRINSIC
low complexity region	580	591	N/A	INTRINSIC
low complexity region	613	625	N/A	INTRINSIC
low complexity region	640	662	N/A	INTRINSIC
low complexity region	846	857	N/A	INTRINSIC
low complexity region	920	944	N/A	INTRINSIC
low complexity region	947	967	N/A	INTRINSIC
low complexity region	990	1004	N/A	INTRINSIC
low complexity region	1062	1074	N/A	INTRINSIC
low complexity region	1343	1360	N/A	INTRINSIC
low complexity region	1368	1385	N/A	INTRINSIC
low complexity region	1417	1432	N/A	INTRINSIC
low complexity region	1454	1466	N/A	INTRINSIC
low complexity region	1526	1540	N/A	INTRINSIC
low complexity region	1614	1628	N/A	INTRINSIC
coiled coil region	1630	1717	N/A	INTRINSIC
low complexity region	1789	1800	N/A	INTRINSIC
coiled coil region	1841	1909	N/A	INTRINSIC
AAA	2093	2247	1.69e-5	SMART
low complexity region	2404	2430	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000183659
AA Change: S1352P

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

SMART Domains

Protein: ENSMUSP00000139309
Gene: ENSMUSG00000052512
AA Change: S1352P

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
CH	23	126	6.19e-16	SMART
low complexity region	141	149	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC
low complexity region	276	287	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
coiled coil region	425	455	N/A	INTRINSIC
low complexity region	519	530	N/A	INTRINSIC
low complexity region	552	564	N/A	INTRINSIC
low complexity region	579	601	N/A	INTRINSIC
low complexity region	785	796	N/A	INTRINSIC
low complexity region	859	883	N/A	INTRINSIC
low complexity region	886	906	N/A	INTRINSIC
low complexity region	929	943	N/A	INTRINSIC
low complexity region	1001	1013	N/A	INTRINSIC
low complexity region	1282	1299	N/A	INTRINSIC
low complexity region	1307	1324	N/A	INTRINSIC
low complexity region	1356	1371	N/A	INTRINSIC
low complexity region	1393	1405	N/A	INTRINSIC
low complexity region	1465	1479	N/A	INTRINSIC
low complexity region	1553	1567	N/A	INTRINSIC
coiled coil region	1569	1656	N/A	INTRINSIC
low complexity region	1728	1739	N/A	INTRINSIC
coiled coil region	1780	1848	N/A	INTRINSIC
AAA	2032	2186	1.69e-5	SMART
low complexity region	2343	2369	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000184109
AA Change: S224P

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

SMART Domains

Protein: ENSMUSP00000138846
Gene: ENSMUSG00000052512
AA Change: S224P

Domain	Start	End	E-Value	Type
low complexity region	154	171	N/A	INTRINSIC
low complexity region	179	196	N/A	INTRINSIC
low complexity region	228	243	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184544

Predicted Effect

probably damaging
Transcript: ENSMUST00000184945
AA Change: S1413P

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

SMART Domains

Protein: ENSMUSP00000139045
Gene: ENSMUSG00000052512
AA Change: S1413P

Domain	Start	End	E-Value	Type
CH	84	187	1.58e-13	SMART
low complexity region	202	210	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
low complexity region	337	348	N/A	INTRINSIC
low complexity region	412	424	N/A	INTRINSIC
coiled coil region	486	516	N/A	INTRINSIC
low complexity region	580	591	N/A	INTRINSIC
low complexity region	613	625	N/A	INTRINSIC
low complexity region	640	662	N/A	INTRINSIC
low complexity region	846	857	N/A	INTRINSIC
low complexity region	920	944	N/A	INTRINSIC
low complexity region	947	967	N/A	INTRINSIC
low complexity region	990	1004	N/A	INTRINSIC
low complexity region	1062	1074	N/A	INTRINSIC
low complexity region	1343	1360	N/A	INTRINSIC
low complexity region	1368	1385	N/A	INTRINSIC
low complexity region	1417	1432	N/A	INTRINSIC
low complexity region	1454	1466	N/A	INTRINSIC
low complexity region	1526	1540	N/A	INTRINSIC
low complexity region	1614	1628	N/A	INTRINSIC
coiled coil region	1630	1717	N/A	INTRINSIC
low complexity region	1789	1800	N/A	INTRINSIC
coiled coil region	1841	1909	N/A	INTRINSIC
AAA	2093	2247	1.69e-5	SMART
low complexity region	2404	2430	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,204,253 (GRCm39)	T46I	probably benign	Het
Afdn	G	A	17: 14,108,283 (GRCm39)	V1269I	probably benign	Het
Aldh5a1	A	T	13: 25,096,253 (GRCm39)	N448K	probably damaging	Het
Cant1	G	T	11: 118,298,698 (GRCm39)	T355K	probably damaging	Het
Ccn2	T	A	10: 24,471,853 (GRCm39)	L25Q	probably damaging	Het
Comp	C	A	8: 70,829,387 (GRCm39)	N321K	probably damaging	Het
D1Pas1	G	T	1: 186,700,576 (GRCm39)	E168D	probably benign	Het
Ddx23	G	A	15: 98,550,849 (GRCm39)	R111*	probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Erlin2	T	A	8: 27,526,468 (GRCm39)	L276Q	probably damaging	Het
Etaa1	T	C	11: 17,895,639 (GRCm39)	N826S	probably benign	Het
Fam168b	A	T	1: 34,867,864 (GRCm39)	N45K	probably damaging	Het
Gas2l2	G	A	11: 83,313,462 (GRCm39)	R617*	probably null	Het
Gtf3c2	C	A	5: 31,323,352 (GRCm39)	C533F	possibly damaging	Het
Hdac5	T	C	11: 102,092,062 (GRCm39)	T676A	probably damaging	Het
Helb	A	G	10: 119,925,716 (GRCm39)		probably null	Het
Igkv3-7	A	T	6: 70,585,004 (GRCm39)	S95C	probably benign	Het
Kdm3b	A	G	18: 34,952,926 (GRCm39)	I899V	probably damaging	Het
Lgr5	G	A	10: 115,423,193 (GRCm39)	S69F	probably damaging	Het
Lrrc55	A	T	2: 85,026,699 (GRCm39)	D108E	probably benign	Het
Mphosph9	T	C	5: 124,429,027 (GRCm39)	N667S	possibly damaging	Het
Myf6	C	T	10: 107,329,690 (GRCm39)	V198M	possibly damaging	Het
Nfe2l1	A	C	11: 96,718,451 (GRCm39)	V28G	probably damaging	Het
Nup210	G	T	6: 91,064,942 (GRCm39)	T186K	possibly damaging	Het
Or13a18	T	A	7: 140,190,697 (GRCm39)	M206K	probably damaging	Het
Or6c1b	G	A	10: 129,272,941 (GRCm39)	D87N	probably benign	Het
Or8b12	T	A	9: 37,658,030 (GRCm39)	I200N	possibly damaging	Het
Or8b4	T	A	9: 37,830,080 (GRCm39)	N42K	probably damaging	Het
Ppfia1	G	A	7: 144,072,911 (GRCm39)	T301M	possibly damaging	Het
Ppp1r14c	A	T	10: 3,316,890 (GRCm39)	Y75F	probably damaging	Het
Ppp1r3g	C	A	13: 36,152,880 (GRCm39)	A100E	probably benign	Het
Rictor	A	G	15: 6,823,493 (GRCm39)	T1557A	probably benign	Het
Shc1	C	T	3: 89,330,266 (GRCm39)	R67*	probably null	Het
Skint10	A	T	4: 112,630,301 (GRCm39)		probably benign	Het
Slk	A	G	19: 47,597,498 (GRCm39)	N102S	probably benign	Het
Tbc1d5	T	C	17: 51,332,203 (GRCm39)		probably benign	Het
Tiam2	G	A	17: 3,568,518 (GRCm39)	V1555I	probably benign	Het
Vmn1r174	C	A	7: 23,453,851 (GRCm39)	S172R	probably benign	Het
Vps39	A	T	2: 120,151,157 (GRCm39)	N823K	probably benign	Het
Wdr27	A	T	17: 15,154,852 (GRCm39)	Y22N	probably damaging	Het
Xrn2	A	G	2: 146,878,582 (GRCm39)		probably null	Het
Zbp1	A	T	2: 173,055,680 (GRCm39)	C161*	probably null	Het
Zfp236	T	A	18: 82,651,862 (GRCm39)	E821V	probably damaging	Het

Other mutations in Nav2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Nav2	APN	7	49,220,942 (GRCm39)	missense	probably damaging	1.00
IGL01150:Nav2	APN	7	49,102,269 (GRCm39)	missense	probably benign	0.17
IGL01649:Nav2	APN	7	49,225,477 (GRCm39)	missense	probably damaging	1.00
IGL01662:Nav2	APN	7	49,220,957 (GRCm39)	missense	probably damaging	1.00
IGL02297:Nav2	APN	7	49,243,977 (GRCm39)	missense	probably damaging	0.98
IGL02313:Nav2	APN	7	49,208,521 (GRCm39)	missense	probably damaging	0.99
IGL02441:Nav2	APN	7	49,102,260 (GRCm39)	missense	probably damaging	1.00
IGL02472:Nav2	APN	7	49,195,789 (GRCm39)	missense	probably damaging	1.00
IGL02477:Nav2	APN	7	49,232,623 (GRCm39)	missense	probably damaging	0.99
IGL02725:Nav2	APN	7	49,214,843 (GRCm39)	missense	probably damaging	1.00
IGL02944:Nav2	APN	7	49,070,004 (GRCm39)	missense	probably damaging	0.99
IGL02953:Nav2	APN	7	49,198,171 (GRCm39)	missense	probably damaging	1.00
IGL03105:Nav2	APN	7	49,114,627 (GRCm39)	missense	probably damaging	1.00
IGL03234:Nav2	APN	7	49,111,756 (GRCm39)	missense	possibly damaging	0.94
IGL03274:Nav2	APN	7	49,011,847 (GRCm39)	missense	probably damaging	1.00
IGL03294:Nav2	APN	7	49,141,205 (GRCm39)	nonsense	probably null
R0006:Nav2	UTSW	7	49,102,978 (GRCm39)	missense	possibly damaging	0.50
R0070:Nav2	UTSW	7	49,220,462 (GRCm39)	missense	probably damaging	1.00
R0113:Nav2	UTSW	7	49,185,701 (GRCm39)	missense	probably damaging	1.00
R0306:Nav2	UTSW	7	49,195,651 (GRCm39)	missense	probably benign	0.01
R0346:Nav2	UTSW	7	49,254,333 (GRCm39)	missense	probably benign	0.11
R0539:Nav2	UTSW	7	49,111,686 (GRCm39)	missense	probably damaging	1.00
R0669:Nav2	UTSW	7	49,058,431 (GRCm39)	missense	probably damaging	1.00
R0785:Nav2	UTSW	7	49,070,081 (GRCm39)	missense	probably benign	0.06
R0970:Nav2	UTSW	7	49,233,901 (GRCm39)	missense	probably damaging	1.00
R1162:Nav2	UTSW	7	49,185,788 (GRCm39)	splice site	probably benign
R1274:Nav2	UTSW	7	49,254,178 (GRCm39)	nonsense	probably null
R1463:Nav2	UTSW	7	49,185,710 (GRCm39)	missense	probably damaging	1.00
R1464:Nav2	UTSW	7	49,011,952 (GRCm39)	missense	probably damaging	1.00
R1464:Nav2	UTSW	7	49,011,952 (GRCm39)	missense	probably damaging	1.00
R1536:Nav2	UTSW	7	49,195,682 (GRCm39)	missense	probably damaging	1.00
R1612:Nav2	UTSW	7	49,220,959 (GRCm39)	missense	probably damaging	1.00
R1638:Nav2	UTSW	7	49,102,213 (GRCm39)	missense	probably benign
R1731:Nav2	UTSW	7	49,197,922 (GRCm39)	missense	probably damaging	1.00
R1734:Nav2	UTSW	7	49,225,468 (GRCm39)	missense	probably damaging	1.00
R1865:Nav2	UTSW	7	49,197,943 (GRCm39)	missense	possibly damaging	0.95
R1945:Nav2	UTSW	7	49,114,620 (GRCm39)	missense	probably damaging	1.00
R1997:Nav2	UTSW	7	49,198,219 (GRCm39)	missense	probably benign	0.16
R2061:Nav2	UTSW	7	49,248,645 (GRCm39)	splice site	probably benign
R2117:Nav2	UTSW	7	49,114,328 (GRCm39)	missense	probably benign	0.00
R2174:Nav2	UTSW	7	49,102,411 (GRCm39)	missense	probably damaging	0.99
R2182:Nav2	UTSW	7	49,247,002 (GRCm39)	missense	probably benign	0.38
R2251:Nav2	UTSW	7	49,103,025 (GRCm39)	missense	probably damaging	1.00
R2283:Nav2	UTSW	7	49,141,152 (GRCm39)	missense	probably damaging	1.00
R2343:Nav2	UTSW	7	49,248,565 (GRCm39)	missense	possibly damaging	0.82
R2472:Nav2	UTSW	7	49,058,632 (GRCm39)	missense	probably benign
R2568:Nav2	UTSW	7	49,247,312 (GRCm39)	missense	probably damaging	1.00
R2656:Nav2	UTSW	7	49,195,690 (GRCm39)	missense	probably damaging	1.00
R2964:Nav2	UTSW	7	49,206,780 (GRCm39)	missense	probably damaging	1.00
R2966:Nav2	UTSW	7	49,206,780 (GRCm39)	missense	probably damaging	1.00
R3817:Nav2	UTSW	7	49,114,310 (GRCm39)	missense	probably benign	0.00
R3834:Nav2	UTSW	7	49,195,606 (GRCm39)	missense	possibly damaging	0.91
R4207:Nav2	UTSW	7	49,246,979 (GRCm39)	missense	probably damaging	1.00
R4207:Nav2	UTSW	7	49,222,046 (GRCm39)	splice site	probably null
R4411:Nav2	UTSW	7	49,047,857 (GRCm39)	missense	probably benign	0.37
R4413:Nav2	UTSW	7	49,047,857 (GRCm39)	missense	probably benign	0.37
R4440:Nav2	UTSW	7	49,225,011 (GRCm39)	splice site	probably benign
R4440:Nav2	UTSW	7	49,201,785 (GRCm39)	missense	possibly damaging	0.86
R4454:Nav2	UTSW	7	49,198,292 (GRCm39)	splice site	probably null
R4729:Nav2	UTSW	7	49,102,567 (GRCm39)	missense	probably benign	0.17
R4801:Nav2	UTSW	7	49,195,600 (GRCm39)	missense	possibly damaging	0.94
R4802:Nav2	UTSW	7	49,195,600 (GRCm39)	missense	possibly damaging	0.94
R4824:Nav2	UTSW	7	49,058,749 (GRCm39)	intron	probably benign
R4887:Nav2	UTSW	7	49,198,182 (GRCm39)	nonsense	probably null
R4908:Nav2	UTSW	7	49,254,258 (GRCm39)	missense	probably damaging	1.00
R4952:Nav2	UTSW	7	48,954,288 (GRCm39)	intron	probably benign
R4965:Nav2	UTSW	7	49,202,625 (GRCm39)	nonsense	probably null
R5169:Nav2	UTSW	7	49,198,231 (GRCm39)	nonsense	probably null
R5224:Nav2	UTSW	7	49,201,473 (GRCm39)	missense	probably benign	0.00
R5249:Nav2	UTSW	7	49,185,661 (GRCm39)	missense	probably damaging	1.00
R5285:Nav2	UTSW	7	49,197,982 (GRCm39)	missense	probably damaging	1.00
R5314:Nav2	UTSW	7	49,058,440 (GRCm39)	small deletion	probably benign
R5320:Nav2	UTSW	7	49,141,121 (GRCm39)	missense	probably benign	0.00
R5377:Nav2	UTSW	7	49,238,908 (GRCm39)	missense	probably benign	0.02
R5471:Nav2	UTSW	7	49,197,917 (GRCm39)	missense	probably damaging	1.00
R5754:Nav2	UTSW	7	49,206,794 (GRCm39)	missense	probably damaging	1.00
R5832:Nav2	UTSW	7	49,197,817 (GRCm39)	splice site	probably null
R5884:Nav2	UTSW	7	49,246,917 (GRCm39)	nonsense	probably null
R5921:Nav2	UTSW	7	48,954,324 (GRCm39)	intron	probably benign
R6180:Nav2	UTSW	7	49,107,915 (GRCm39)	missense	probably benign	0.39
R6208:Nav2	UTSW	7	49,213,851 (GRCm39)	missense	probably damaging	0.99
R6373:Nav2	UTSW	7	49,102,923 (GRCm39)	missense	probably damaging	1.00
R6450:Nav2	UTSW	7	49,244,114 (GRCm39)	missense	probably damaging	1.00
R6522:Nav2	UTSW	7	49,247,281 (GRCm39)	missense	probably damaging	1.00
R6626:Nav2	UTSW	7	49,244,100 (GRCm39)	missense	probably damaging	1.00
R6695:Nav2	UTSW	7	49,114,652 (GRCm39)	missense	probably benign	0.04
R6842:Nav2	UTSW	7	49,107,917 (GRCm39)	missense	possibly damaging	0.91
R6847:Nav2	UTSW	7	49,141,204 (GRCm39)	missense	probably benign	0.14
R7287:Nav2	UTSW	7	49,070,076 (GRCm39)	missense	probably benign	0.01
R7312:Nav2	UTSW	7	49,111,672 (GRCm39)	missense	possibly damaging	0.55
R7315:Nav2	UTSW	7	49,198,037 (GRCm39)	missense	possibly damaging	0.61
R7337:Nav2	UTSW	7	49,201,521 (GRCm39)	missense	possibly damaging	0.56
R7366:Nav2	UTSW	7	49,203,951 (GRCm39)	splice site	probably null
R7451:Nav2	UTSW	7	49,202,577 (GRCm39)	splice site	probably null
R7545:Nav2	UTSW	7	49,232,605 (GRCm39)	missense	probably damaging	1.00
R7706:Nav2	UTSW	7	49,244,067 (GRCm39)	missense	probably benign	0.35
R7730:Nav2	UTSW	7	49,222,145 (GRCm39)	missense	probably damaging	1.00
R7812:Nav2	UTSW	7	49,246,921 (GRCm39)	missense	probably benign	0.13
R8097:Nav2	UTSW	7	49,237,525 (GRCm39)	missense	probably damaging	1.00
R8110:Nav2	UTSW	7	49,201,698 (GRCm39)	nonsense	probably null
R8119:Nav2	UTSW	7	49,103,232 (GRCm39)	missense	probably damaging	0.99
R8298:Nav2	UTSW	7	49,204,009 (GRCm39)	critical splice donor site	probably null
R8306:Nav2	UTSW	7	49,195,765 (GRCm39)	missense	probably benign	0.33
R8331:Nav2	UTSW	7	49,102,371 (GRCm39)	missense	probably benign
R8402:Nav2	UTSW	7	49,103,185 (GRCm39)	missense	probably benign	0.43
R8421:Nav2	UTSW	7	49,102,269 (GRCm39)	missense	probably benign
R8478:Nav2	UTSW	7	49,111,733 (GRCm39)	missense	probably damaging	0.99
R8724:Nav2	UTSW	7	49,141,184 (GRCm39)	missense	possibly damaging	0.82
R8753:Nav2	UTSW	7	49,102,320 (GRCm39)	missense	probably benign
R8835:Nav2	UTSW	7	49,248,551 (GRCm39)	missense	possibly damaging	0.83
R8933:Nav2	UTSW	7	49,111,705 (GRCm39)	missense	probably damaging	1.00
R8957:Nav2	UTSW	7	49,220,964 (GRCm39)	missense	probably damaging	1.00
R9069:Nav2	UTSW	7	49,208,561 (GRCm39)	missense	probably damaging	0.99
R9095:Nav2	UTSW	7	49,254,293 (GRCm39)	missense	probably damaging	1.00
R9223:Nav2	UTSW	7	49,202,599 (GRCm39)	missense	probably damaging	1.00
R9261:Nav2	UTSW	7	49,246,904 (GRCm39)	missense	probably damaging	1.00
X0023:Nav2	UTSW	7	49,197,647 (GRCm39)	missense	possibly damaging	0.47
Z1177:Nav2	UTSW	7	49,243,971 (GRCm39)	missense	probably benign	0.01
Z1177:Nav2	UTSW	7	49,102,509 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- CCCAGCAAGGTAACCTAGAGTC -3'
(R):5'- TGTCTGTATCTAGGGAAGGAAATC -3'

Sequencing Primer
(F):5'- GTAACCTAGAGTCCCCCTCAGG -3'
(R):5'- AAATCTTCCTGAGGGCGTG -3'

Posted On

2018-07-24