Mutagenetix > Incidental Mutation

Incidental Mutation 'R1733:Sema5b'

199528

Institutional Source

Beutler Lab

Gene Symbol

Sema5b

Ensembl Gene

ENSMUSG00000052133

Gene Name

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B

Synonyms

SemG, SemG, Semag

MMRRC Submission

039765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1733 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

35361517-35485103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35466737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 213 (P213L)

Ref Sequence

ENSEMBL: ENSMUSP00000112536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050625] [ENSMUST00000120756]

AlphaFold

Q60519

Predicted Effect

probably damaging
Transcript: ENSMUST00000050625
AA Change: P213L

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

SMART Domains

Protein: ENSMUSP00000057494
Gene: ENSMUSG00000052133
AA Change: P213L

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Sema	68	479	1.68e-174	SMART
PSI	497	544	9.18e-12	SMART
TSP1	609	662	3.34e-15	SMART
TSP1	667	713	3.42e-12	SMART
TSP1	798	850	1.58e-16	SMART
TSP1	855	907	2.45e-13	SMART
TSP1	910	957	1.02e-1	SMART
transmembrane domain	977	999	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120756
AA Change: P213L

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

SMART Domains

Protein: ENSMUSP00000112536
Gene: ENSMUSG00000052133
AA Change: P213L

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Sema	68	479	1.68e-174	SMART
PSI	497	544	9.18e-12	SMART
TSP1	609	662	3.34e-15	SMART
TSP1	667	742	7.61e-10	SMART
TSP1	827	879	1.58e-16	SMART
TSP1	884	936	2.45e-13	SMART
TSP1	939	986	1.02e-1	SMART
transmembrane domain	1006	1028	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133554

Meta Mutation Damage Score

0.3194

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (95/100)

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 semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	G	18: 59,165,001 (GRCm39)	C1034W	probably damaging	Het
Agbl2	G	T	2: 90,641,089 (GRCm39)	K737N	probably damaging	Het
Aqp9	T	A	9: 71,019,624 (GRCm39)	I279F	possibly damaging	Het
Aspm	T	A	1: 139,384,855 (GRCm39)	N166K	probably benign	Het
Atp13a3	A	T	16: 30,176,084 (GRCm39)	I186N	probably benign	Het
Btaf1	A	T	19: 36,972,362 (GRCm39)	I1366L	probably benign	Het
Camk4	A	C	18: 33,211,074 (GRCm39)	K60Q	possibly damaging	Het
Card11	G	T	5: 140,892,388 (GRCm39)	Q226K	possibly damaging	Het
Ccdc187	T	C	2: 26,183,670 (GRCm39)	D110G	possibly damaging	Het
Col5a2	C	T	1: 45,446,192 (GRCm39)	R462Q	possibly damaging	Het
Cp	A	T	3: 20,022,383 (GRCm39)		probably benign	Het
Cpz	A	T	5: 35,675,102 (GRCm39)	V38E	probably damaging	Het
Cxcr6	G	A	9: 123,639,181 (GRCm39)	V68I	probably damaging	Het
Cyp2a22	C	A	7: 26,634,187 (GRCm39)	E322D	possibly damaging	Het
D130052B06Rik	C	T	11: 33,573,784 (GRCm39)	T127I	probably benign	Het
Daam2	T	A	17: 49,797,231 (GRCm39)	M185L	possibly damaging	Het
Dnaja3	G	A	16: 4,502,029 (GRCm39)	R11K	probably null	Het
Dnttip2	T	A	3: 122,070,397 (GRCm39)	S537R	probably benign	Het
Dock9	G	T	14: 121,864,292 (GRCm39)	H572Q	probably benign	Het
Dpp4	T	A	2: 62,203,213 (GRCm39)		probably null	Het
Enc1	T	G	13: 97,381,550 (GRCm39)	I20S	possibly damaging	Het
Ephb6	T	A	6: 41,596,654 (GRCm39)	H900Q	probably benign	Het
Ercc3	T	C	18: 32,400,218 (GRCm39)	V690A	possibly damaging	Het
Fam90a1a	C	T	8: 22,453,385 (GRCm39)	Q247*	probably null	Het
Fkbp10	G	A	11: 100,314,757 (GRCm39)	R423H	probably benign	Het
Fus	A	G	7: 127,580,717 (GRCm39)	M265V	probably benign	Het
Gas2l3	T	A	10: 89,250,127 (GRCm39)	K330N	probably damaging	Het
Gpam	T	G	19: 55,069,901 (GRCm39)	L410F	probably damaging	Het
Gpr37l1	A	T	1: 135,089,273 (GRCm39)	V264E	possibly damaging	Het
Grk6	A	T	13: 55,600,979 (GRCm39)		probably benign	Het
Gsto1	G	T	19: 47,843,674 (GRCm39)	V19F	probably damaging	Het
H1f7	G	T	15: 98,154,016 (GRCm39)	Q378K	unknown	Het
Hgfac	G	A	5: 35,201,018 (GRCm39)	C194Y	probably damaging	Het
Hivep1	A	G	13: 42,311,407 (GRCm39)	N1216D	probably damaging	Het
Hrg	C	T	16: 22,769,997 (GRCm39)	A42V	probably damaging	Het
Irx4	A	G	13: 73,414,824 (GRCm39)	D136G	probably benign	Het
Kcnn3	G	T	3: 89,559,397 (GRCm39)	V556L	probably benign	Het
Klk1b8	T	C	7: 43,451,545 (GRCm39)	Y179H	possibly damaging	Het
Klrb1f	T	A	6: 129,031,322 (GRCm39)	L173*	probably null	Het
Kremen2	A	T	17: 23,962,373 (GRCm39)		probably null	Het
Krt25	A	T	11: 99,207,378 (GRCm39)	Y400*	probably null	Het
Lingo4	A	T	3: 94,310,485 (GRCm39)	R474S	probably benign	Het
Lnpep	T	C	17: 17,773,575 (GRCm39)	K599E	probably benign	Het
Mapk8ip3	A	T	17: 25,155,824 (GRCm39)	M2K	possibly damaging	Het
Mat2b	A	T	11: 40,570,904 (GRCm39)	S307T	probably benign	Het
Mcph1	C	A	8: 18,681,979 (GRCm39)	A372D	probably benign	Het
Mfsd6	T	A	1: 52,748,524 (GRCm39)	I114F	probably damaging	Het
Mlkl	A	G	8: 112,049,380 (GRCm39)	S248P	probably damaging	Het
Mmrn1	A	T	6: 60,954,085 (GRCm39)	T789S	probably benign	Het
Mphosph8	A	G	14: 56,930,916 (GRCm39)	Y735C	probably damaging	Het
Mrc1	T	A	2: 14,261,910 (GRCm39)	Y300N	probably damaging	Het
Mrps11	A	G	7: 78,442,460 (GRCm39)	H180R	probably damaging	Het
Msh4	T	C	3: 153,573,404 (GRCm39)	D556G	probably damaging	Het
Myh10	C	A	11: 68,693,122 (GRCm39)	D1472E	probably benign	Het
Myo16	T	C	8: 10,492,283 (GRCm39)	S742P	probably damaging	Het
Nlrp5-ps	C	T	7: 14,316,978 (GRCm39)		noncoding transcript	Het
Nrp1	C	T	8: 129,194,974 (GRCm39)	P477S	probably benign	Het
Oplah	G	T	15: 76,186,683 (GRCm39)	C665*	probably null	Het
Or4f14b	T	A	2: 111,775,625 (GRCm39)	M59L	probably benign	Het
Or4f54	T	C	2: 111,123,210 (GRCm39)	V199A	probably damaging	Het
Or51b17	T	C	7: 103,542,118 (GRCm39)	S275G	probably benign	Het
Or8g22	G	T	9: 38,958,678 (GRCm39)	H57N	unknown	Het
Otogl	T	C	10: 107,619,573 (GRCm39)	T1696A	possibly damaging	Het
Pdzrn4	A	G	15: 92,299,855 (GRCm39)	I242V	probably benign	Het
Phgdh	G	A	3: 98,235,451 (GRCm39)	T141I	probably benign	Het
Pigv	T	C	4: 133,392,237 (GRCm39)	Y311C	probably damaging	Het
Pik3c2a	T	G	7: 116,017,755 (GRCm39)	M1L	possibly damaging	Het
Pitpnm1	A	T	19: 4,159,960 (GRCm39)	K760*	probably null	Het
Pnrc1	G	A	4: 33,246,438 (GRCm39)	H174Y	probably damaging	Het
Ptgis	A	G	2: 167,033,888 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,643,773 (GRCm39)		probably null	Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Sacs	T	G	14: 61,442,903 (GRCm39)	F1650V	probably damaging	Het
Sbno2	T	A	10: 79,894,342 (GRCm39)	N1081Y	possibly damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint6	T	A	4: 113,034,234 (GRCm39)		probably benign	Het
Slc4a2	A	G	5: 24,634,565 (GRCm39)	E68G	probably damaging	Het
Srcin1	C	T	11: 97,424,327 (GRCm39)	V634I	probably benign	Het
Srsf10	T	A	4: 135,590,476 (GRCm39)	F134I	possibly damaging	Het
Stab1	C	A	14: 30,867,260 (GRCm39)	G1700V	probably damaging	Het
Sun1	T	G	5: 139,216,544 (GRCm39)	C290W	possibly damaging	Het
Svs6	T	A	2: 164,159,577 (GRCm39)		probably benign	Het
Tmem8b	G	A	4: 43,690,228 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,983,238 (GRCm39)	D81G	probably damaging	Het
Vmn1r215	T	A	13: 23,260,848 (GRCm39)	V296D	probably benign	Het
Vmn1r6	T	A	6: 56,979,607 (GRCm39)	S90T	probably damaging	Het
Wbp2	A	G	11: 115,974,709 (GRCm39)	F42L	probably benign	Het
Wdr20rt	C	T	12: 65,274,055 (GRCm39)	T333I	possibly damaging	Het
Zfp341	C	T	2: 154,483,298 (GRCm39)	A552V	probably benign	Het
Zfp607b	A	T	7: 27,391,949 (GRCm39)	H8L	possibly damaging	Het
Zfp758	G	T	17: 22,594,830 (GRCm39)	D439Y	probably damaging	Het
Zfp946	T	C	17: 22,672,538 (GRCm39)	Y46H	probably damaging	Het
Zic2	G	A	14: 122,716,359 (GRCm39)	E432K	probably damaging	Het

Other mutations in Sema5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Sema5b	APN	16	35,471,685 (GRCm39)	missense	probably damaging	1.00
IGL01584:Sema5b	APN	16	35,465,793 (GRCm39)	missense	probably damaging	1.00
IGL01859:Sema5b	APN	16	35,467,479 (GRCm39)	missense	possibly damaging	0.94
IGL02195:Sema5b	APN	16	35,480,849 (GRCm39)	critical splice acceptor site	probably null
IGL02346:Sema5b	APN	16	35,470,125 (GRCm39)	missense	probably damaging	1.00
IGL02850:Sema5b	APN	16	35,480,885 (GRCm39)	missense	probably benign	0.01
IGL03277:Sema5b	APN	16	35,471,682 (GRCm39)	missense	probably damaging	0.96
R0101:Sema5b	UTSW	16	35,483,472 (GRCm39)	splice site	probably benign
R0368:Sema5b	UTSW	16	35,448,470 (GRCm39)	missense	probably damaging	1.00
R0426:Sema5b	UTSW	16	35,466,725 (GRCm39)	missense	probably damaging	1.00
R0675:Sema5b	UTSW	16	35,480,703 (GRCm39)	missense	probably benign	0.00
R0905:Sema5b	UTSW	16	35,443,001 (GRCm39)	missense	probably benign	0.33
R1163:Sema5b	UTSW	16	35,448,466 (GRCm39)	missense	probably benign	0.19
R1195:Sema5b	UTSW	16	35,472,030 (GRCm39)	missense	probably null	0.94
R1195:Sema5b	UTSW	16	35,472,030 (GRCm39)	missense	probably null	0.94
R1666:Sema5b	UTSW	16	35,478,852 (GRCm39)	missense	probably benign	0.03
R1706:Sema5b	UTSW	16	35,470,125 (GRCm39)	missense	probably damaging	0.98
R1775:Sema5b	UTSW	16	35,480,694 (GRCm39)	missense	probably benign
R2215:Sema5b	UTSW	16	35,480,585 (GRCm39)	missense	probably damaging	1.00
R2844:Sema5b	UTSW	16	35,480,301 (GRCm39)	missense	probably damaging	0.98
R3086:Sema5b	UTSW	16	35,443,093 (GRCm39)	missense	probably benign
R3613:Sema5b	UTSW	16	35,480,520 (GRCm39)	missense	probably benign
R4774:Sema5b	UTSW	16	35,483,552 (GRCm39)	missense	probably damaging	1.00
R5743:Sema5b	UTSW	16	35,478,846 (GRCm39)	missense	probably damaging	1.00
R5856:Sema5b	UTSW	16	35,466,756 (GRCm39)	nonsense	probably null
R5993:Sema5b	UTSW	16	35,466,572 (GRCm39)	missense	probably damaging	1.00
R6248:Sema5b	UTSW	16	35,448,377 (GRCm39)	splice site	probably null
R6420:Sema5b	UTSW	16	35,483,516 (GRCm39)	missense	probably benign	0.08
R6795:Sema5b	UTSW	16	35,478,941 (GRCm39)	nonsense	probably null
R6825:Sema5b	UTSW	16	35,448,377 (GRCm39)	splice site	probably null
R7066:Sema5b	UTSW	16	35,471,682 (GRCm39)	missense	probably benign	0.26
R7244:Sema5b	UTSW	16	35,480,915 (GRCm39)	missense	probably benign
R7446:Sema5b	UTSW	16	35,467,573 (GRCm39)	missense	probably damaging	1.00
R7497:Sema5b	UTSW	16	35,481,700 (GRCm39)	missense	probably damaging	1.00
R7516:Sema5b	UTSW	16	35,471,540 (GRCm39)	missense	probably benign	0.05
R7878:Sema5b	UTSW	16	35,481,996 (GRCm39)	missense	probably benign	0.00
R7922:Sema5b	UTSW	16	35,478,626 (GRCm39)	frame shift	probably null
R8397:Sema5b	UTSW	16	35,471,691 (GRCm39)	missense	possibly damaging	0.59
R8537:Sema5b	UTSW	16	35,471,979 (GRCm39)	missense	possibly damaging	0.49
R8929:Sema5b	UTSW	16	35,467,737 (GRCm39)	intron	probably benign
R9262:Sema5b	UTSW	16	35,453,223 (GRCm39)	missense	possibly damaging	0.57
R9389:Sema5b	UTSW	16	35,466,092 (GRCm39)	missense	probably damaging	1.00
R9579:Sema5b	UTSW	16	35,467,582 (GRCm39)	missense	probably benign	0.01
R9623:Sema5b	UTSW	16	35,443,121 (GRCm39)	missense	possibly damaging	0.74
Z1088:Sema5b	UTSW	16	35,480,960 (GRCm39)	missense	probably damaging	0.99
Z1176:Sema5b	UTSW	16	35,470,234 (GRCm39)	missense	probably benign	0.01
Z1176:Sema5b	UTSW	16	35,466,643 (GRCm39)	missense	probably benign	0.05
Z1176:Sema5b	UTSW	16	35,448,388 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACCTCACCCTTTGTAATGACCACG -3'
(R):5'- TGGTCTTTGGGCAAACACCTTCC -3'

Sequencing Primer
(F):5'- CCCTTTGTAATGACCACGAGATTG -3'
(R):5'- GCAAACACCTTCCCTGTCC -3'

Posted On

2014-05-23