Mutagenetix > Incidental Mutation

Incidental Mutation 'R6317:Cspg4b'

510056

Institutional Source

Beutler Lab

Gene Symbol

Cspg4b

Ensembl Gene

ENSMUSG00000021763

Gene Name

chondroitin sulfate proteoglycan 4B

Synonyms

BC067074

MMRRC Submission

044417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R6317 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113429570-113507049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113504802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1977 (L1977H)

Ref Sequence

ENSEMBL: ENSMUSP00000119993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078163] [ENSMUST00000136755]

AlphaFold

F6RXI4

Predicted Effect

probably benign
Transcript: ENSMUST00000078163
AA Change: L435H

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000077297
Gene: ENSMUSG00000021763
AA Change: L435H

Domain	Start	End	E-Value	Type
Pfam:Cadherin_3	29	136	4.6e-12	PFAM
low complexity region	190	198	N/A	INTRINSIC
Pfam:Cadherin_3	231	384	4.9e-38	PFAM
transmembrane domain	725	747	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135096

SMART Domains

Protein: ENSMUSP00000131959
Gene: ENSMUSG00000021763

Domain	Start	End	E-Value	Type
Pfam:Cadherin_3	1	86	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136755
AA Change: L1977H

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: L1977H

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LamG	44	177	1.28e-20	SMART
LamG	229	371	4.66e-14	SMART
low complexity region	407	420	N/A	INTRINSIC
Pfam:Cadherin_3	492	644	2.1e-35	PFAM
Pfam:Cadherin_3	647	759	1e-7	PFAM
Pfam:Cadherin_3	741	873	1.2e-8	PFAM
Pfam:Cadherin_3	861	989	4.1e-14	PFAM
Pfam:Cadherin_3	958	1114	1.2e-20	PFAM
Pfam:Cadherin_3	1117	1223	1.6e-10	PFAM
Pfam:Cadherin_3	1212	1341	5.6e-12	PFAM
Pfam:Cadherin_3	1347	1438	3.8e-8	PFAM
Pfam:Cadherin_3	1419	1562	2.3e-45	PFAM
Pfam:Cadherin_3	1576	1679	2.1e-9	PFAM
low complexity region	1732	1740	N/A	INTRINSIC
Pfam:Cadherin_3	1773	1926	3e-35	PFAM
transmembrane domain	2267	2289	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (62/62)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,601,264 (GRCm39)	N206S	probably damaging	Het
Abcf2	A	T	5: 24,774,156 (GRCm39)	Y315*	probably null	Het
Adck1	T	G	12: 88,368,921 (GRCm39)	V133G	probably damaging	Het
Aoc2	T	C	11: 101,216,292 (GRCm39)	F125S	probably damaging	Het
As3mt	A	G	19: 46,713,410 (GRCm39)	D319G	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz1a	T	C	12: 55,001,585 (GRCm39)	Q145R	possibly damaging	Het
Bhlhe22	A	G	3: 18,109,778 (GRCm39)	E276G	probably damaging	Het
Cdo1	C	A	18: 46,861,104 (GRCm39)	V36L	probably benign	Het
Ces1h	A	G	8: 94,084,046 (GRCm39)	F388S	unknown	Het
Col6a5	T	A	9: 105,766,266 (GRCm39)	N1885Y	probably damaging	Het
Corin	A	T	5: 72,496,388 (GRCm39)	C522S	probably damaging	Het
Csmd1	G	T	8: 16,760,658 (GRCm39)	T159K	possibly damaging	Het
Cwc27	T	A	13: 104,940,769 (GRCm39)	K197*	probably null	Het
Cyp20a1	T	C	1: 60,391,283 (GRCm39)	S26P	probably damaging	Het
Daxx	T	A	17: 34,130,949 (GRCm39)	D321E	probably damaging	Het
Gria2	A	C	3: 80,648,311 (GRCm39)	Y142D	possibly damaging	Het
Gspt1	T	C	16: 11,041,072 (GRCm39)		probably null	Het
Ighv1-80	A	T	12: 115,876,265 (GRCm39)	V17D	probably damaging	Het
Ints4	T	A	7: 97,178,425 (GRCm39)	L675*	probably null	Het
Kif13a	C	T	13: 46,980,233 (GRCm39)	R173Q	probably damaging	Het
Map3k2	T	C	18: 32,336,086 (GRCm39)	I91T	probably damaging	Het
Map3k8	A	G	18: 4,348,979 (GRCm39)		probably null	Het
Mcemp1	G	A	8: 3,717,284 (GRCm39)	W101*	probably null	Het
Naca	T	C	10: 127,879,993 (GRCm39)	I1675T	probably benign	Het
Nol9	T	C	4: 152,125,514 (GRCm39)	F155S	probably damaging	Het
Obscn	C	A	11: 58,960,721 (GRCm39)	D3406Y	probably damaging	Het
Obsl1	A	G	1: 75,466,273 (GRCm39)	V1485A	possibly damaging	Het
Oga	A	T	19: 45,760,119 (GRCm39)		probably null	Het
Or8a1	T	C	9: 37,641,725 (GRCm39)	K185E	possibly damaging	Het
Otog	C	A	7: 45,950,639 (GRCm39)	P337H	probably damaging	Het
Patl1	T	C	19: 11,898,242 (GRCm39)	L140P	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Pex11g	G	T	8: 3,514,092 (GRCm39)	D23E	probably damaging	Het
Phactr2	A	T	10: 13,137,626 (GRCm39)	M172K	probably damaging	Het
Plce1	G	A	19: 38,512,974 (GRCm39)	W91*	probably null	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Podn	A	G	4: 107,884,357 (GRCm39)	F44S	probably damaging	Het
Polr3e	A	G	7: 120,527,205 (GRCm39)	D87G	possibly damaging	Het
Prmt2	T	A	10: 76,058,351 (GRCm39)	I153F	probably benign	Het
Prpf6	T	C	2: 181,273,229 (GRCm39)	V258A	probably benign	Het
Ptpn21	G	T	12: 98,655,521 (GRCm39)	A482E	probably damaging	Het
Qrich1	A	T	9: 108,411,491 (GRCm39)	N339Y	probably damaging	Het
Rabgap1	T	A	2: 37,432,659 (GRCm39)	V750D	possibly damaging	Het
Reg3d	G	A	6: 78,354,428 (GRCm39)	P58S	probably damaging	Het
Rp1	A	G	1: 4,112,212 (GRCm39)	L1213P	unknown	Het
Sema6b	A	G	17: 56,431,047 (GRCm39)	L872S	probably benign	Het
Serpinb7	T	C	1: 107,379,436 (GRCm39)	I281T	probably damaging	Het
Shank2	T	C	7: 143,838,821 (GRCm39)	V685A	possibly damaging	Het
Slc28a2	A	G	2: 122,284,980 (GRCm39)	I323V	possibly damaging	Het
Slc7a6	A	T	8: 106,919,099 (GRCm39)	I228F	probably damaging	Het
Slc9a9	A	G	9: 94,821,512 (GRCm39)	T300A	possibly damaging	Het
Spta1	A	G	1: 174,068,653 (GRCm39)	N2151S	probably damaging	Het
Sult2a1	T	A	7: 13,569,945 (GRCm39)	I96L	probably benign	Het
Tgm2	T	C	2: 157,966,070 (GRCm39)	D528G	probably benign	Het
Ubl7	T	C	9: 57,818,456 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,839,716 (GRCm39)	I983L	probably benign	Het
Vmn1r172	T	C	7: 23,359,742 (GRCm39)	L209P	probably damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn1r3	T	C	4: 3,184,993 (GRCm39)	S105G	probably benign	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	probably damaging	Het

Other mutations in Cspg4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01723:Cspg4b	APN	13	113,504,091 (GRCm39)	missense	possibly damaging	0.91
IGL03023:Cspg4b	APN	13	113,488,275 (GRCm39)	missense	probably benign	0.03
cumpleanos	UTSW	13	113,504,870 (GRCm39)	missense	possibly damaging	0.87
Sorpresa	UTSW	13	113,454,725 (GRCm39)	missense	probably damaging	1.00
P0018:Cspg4b	UTSW	13	113,504,040 (GRCm39)	missense	possibly damaging	0.60
R0003:Cspg4b	UTSW	13	113,505,310 (GRCm39)	missense	probably benign	0.00
R0016:Cspg4b	UTSW	13	113,502,639 (GRCm39)	missense	probably damaging	1.00
R0016:Cspg4b	UTSW	13	113,502,639 (GRCm39)	missense	probably damaging	1.00
R0053:Cspg4b	UTSW	13	113,505,023 (GRCm39)	missense	probably benign	0.00
R0053:Cspg4b	UTSW	13	113,505,023 (GRCm39)	missense	probably benign	0.00
R0158:Cspg4b	UTSW	13	113,505,687 (GRCm39)	nonsense	probably null
R0281:Cspg4b	UTSW	13	113,505,677 (GRCm39)	missense	probably damaging	1.00
R1212:Cspg4b	UTSW	13	113,505,951 (GRCm39)	intron	probably benign
R1300:Cspg4b	UTSW	13	113,502,694 (GRCm39)	missense	probably damaging	1.00
R1434:Cspg4b	UTSW	13	113,505,026 (GRCm39)	missense	possibly damaging	0.46
R1509:Cspg4b	UTSW	13	113,504,790 (GRCm39)	missense	probably damaging	0.99
R1738:Cspg4b	UTSW	13	113,504,034 (GRCm39)	missense	possibly damaging	0.69
R1758:Cspg4b	UTSW	13	113,505,266 (GRCm39)	missense	possibly damaging	0.78
R1828:Cspg4b	UTSW	13	113,505,342 (GRCm39)	missense	probably damaging	1.00
R2061:Cspg4b	UTSW	13	113,454,628 (GRCm39)	missense	probably damaging	0.99
R2570:Cspg4b	UTSW	13	113,455,121 (GRCm39)	missense	probably benign	0.34
R2884:Cspg4b	UTSW	13	113,457,216 (GRCm39)	missense	probably damaging	1.00
R2884:Cspg4b	UTSW	13	113,505,725 (GRCm39)	missense	probably benign	0.00
R3004:Cspg4b	UTSW	13	113,502,688 (GRCm39)	missense	probably damaging	1.00
R3150:Cspg4b	UTSW	13	113,488,294 (GRCm39)	missense	probably damaging	1.00
R3773:Cspg4b	UTSW	13	113,454,743 (GRCm39)	missense	probably benign	0.12
R3864:Cspg4b	UTSW	13	113,459,485 (GRCm39)	missense	possibly damaging	0.64
R3971:Cspg4b	UTSW	13	113,453,660 (GRCm39)	missense	probably damaging	1.00
R4004:Cspg4b	UTSW	13	113,454,914 (GRCm39)	missense	probably benign	0.00
R4271:Cspg4b	UTSW	13	113,478,904 (GRCm39)	missense	possibly damaging	0.76
R4382:Cspg4b	UTSW	13	113,459,288 (GRCm39)	missense	probably benign	0.10
R4484:Cspg4b	UTSW	13	113,455,733 (GRCm39)	missense	probably damaging	0.98
R4570:Cspg4b	UTSW	13	113,454,725 (GRCm39)	missense	probably damaging	1.00
R4600:Cspg4b	UTSW	13	113,455,783 (GRCm39)	missense	possibly damaging	0.95
R4622:Cspg4b	UTSW	13	113,456,615 (GRCm39)	missense	probably benign	0.00
R4676:Cspg4b	UTSW	13	113,505,342 (GRCm39)	missense	probably damaging	1.00
R4676:Cspg4b	UTSW	13	113,505,341 (GRCm39)	missense	probably damaging	0.98
R4677:Cspg4b	UTSW	13	113,516,020 (GRCm39)	missense	unknown
R4775:Cspg4b	UTSW	13	113,454,229 (GRCm39)	missense	possibly damaging	0.91
R4779:Cspg4b	UTSW	13	113,504,870 (GRCm39)	missense	possibly damaging	0.87
R4780:Cspg4b	UTSW	13	113,454,392 (GRCm39)	missense	probably damaging	1.00
R4829:Cspg4b	UTSW	13	113,504,696 (GRCm39)	missense	probably benign	0.05
R4841:Cspg4b	UTSW	13	113,502,724 (GRCm39)	missense	probably benign	0.00
R4879:Cspg4b	UTSW	13	113,456,321 (GRCm39)	missense	probably benign	0.03
R4930:Cspg4b	UTSW	13	113,464,196 (GRCm39)	missense	probably damaging	1.00
R4934:Cspg4b	UTSW	13	113,504,882 (GRCm39)	missense	probably damaging	1.00
R4987:Cspg4b	UTSW	13	113,454,635 (GRCm39)	missense	probably benign	0.07
R5065:Cspg4b	UTSW	13	113,457,453 (GRCm39)	missense	probably benign	0.01
R5216:Cspg4b	UTSW	13	113,478,947 (GRCm39)	missense	probably benign	0.20
R5236:Cspg4b	UTSW	13	113,502,754 (GRCm39)	missense	probably benign	0.14
R5247:Cspg4b	UTSW	13	113,455,993 (GRCm39)	missense	probably damaging	1.00
R5250:Cspg4b	UTSW	13	113,456,305 (GRCm39)	missense	possibly damaging	0.95
R5337:Cspg4b	UTSW	13	113,455,299 (GRCm39)	missense	probably damaging	1.00
R5342:Cspg4b	UTSW	13	113,502,803 (GRCm39)	critical splice donor site	probably null
R5426:Cspg4b	UTSW	13	113,505,587 (GRCm39)	missense	probably benign	0.01
R5472:Cspg4b	UTSW	13	113,455,703 (GRCm39)	missense	probably benign	0.12
R5526:Cspg4b	UTSW	13	113,504,427 (GRCm39)	missense	probably benign	0.22
R5543:Cspg4b	UTSW	13	113,457,407 (GRCm39)	missense	probably damaging	0.96
R5589:Cspg4b	UTSW	13	113,454,484 (GRCm39)	missense	possibly damaging	0.95
R5623:Cspg4b	UTSW	13	113,483,168 (GRCm39)	missense	possibly damaging	0.95
R5668:Cspg4b	UTSW	13	113,453,701 (GRCm39)	missense	possibly damaging	0.55
R5793:Cspg4b	UTSW	13	113,457,556 (GRCm39)	missense	possibly damaging	0.75
R5824:Cspg4b	UTSW	13	113,505,154 (GRCm39)	missense	probably damaging	1.00
R6038:Cspg4b	UTSW	13	113,455,153 (GRCm39)	missense	possibly damaging	0.49
R6038:Cspg4b	UTSW	13	113,455,153 (GRCm39)	missense	possibly damaging	0.49
R6053:Cspg4b	UTSW	13	113,457,260 (GRCm39)	missense	possibly damaging	0.51
R6125:Cspg4b	UTSW	13	113,454,217 (GRCm39)	missense	probably benign	0.00
R6129:Cspg4b	UTSW	13	113,505,340 (GRCm39)	nonsense	probably null
R6290:Cspg4b	UTSW	13	113,456,492 (GRCm39)	missense	probably damaging	0.97
R6291:Cspg4b	UTSW	13	113,456,981 (GRCm39)	missense	possibly damaging	0.85
R6302:Cspg4b	UTSW	13	113,504,646 (GRCm39)	missense	probably damaging	1.00
R6395:Cspg4b	UTSW	13	113,506,003 (GRCm39)	missense	probably damaging	1.00
R6673:Cspg4b	UTSW	13	113,504,366 (GRCm39)	nonsense	probably null
R6783:Cspg4b	UTSW	13	113,456,743 (GRCm39)	nonsense	probably null
R6800:Cspg4b	UTSW	13	113,504,686 (GRCm39)	missense	probably benign	0.02
R6857:Cspg4b	UTSW	13	113,456,492 (GRCm39)	missense	probably damaging	0.97
R6889:Cspg4b	UTSW	13	113,454,912 (GRCm39)	missense	probably damaging	0.99
R6934:Cspg4b	UTSW	13	113,505,800 (GRCm39)	missense	probably benign
R7019:Cspg4b	UTSW	13	113,488,284 (GRCm39)	missense	probably benign	0.01
R7100:Cspg4b	UTSW	13	113,455,501 (GRCm39)	missense
R7115:Cspg4b	UTSW	13	113,457,310 (GRCm39)	missense
R7152:Cspg4b	UTSW	13	113,455,384 (GRCm39)	missense
R7195:Cspg4b	UTSW	13	113,504,463 (GRCm39)	missense
R7213:Cspg4b	UTSW	13	113,454,475 (GRCm39)	missense
R7250:Cspg4b	UTSW	13	113,455,349 (GRCm39)	missense
R7341:Cspg4b	UTSW	13	113,454,706 (GRCm39)	missense
R7358:Cspg4b	UTSW	13	113,456,501 (GRCm39)	missense
R7359:Cspg4b	UTSW	13	113,478,964 (GRCm39)	missense
R7396:Cspg4b	UTSW	13	113,455,524 (GRCm39)	missense
R7632:Cspg4b	UTSW	13	113,457,420 (GRCm39)	missense
R7689:Cspg4b	UTSW	13	113,515,948 (GRCm39)	missense
R7713:Cspg4b	UTSW	13	113,483,075 (GRCm39)	missense
R7892:Cspg4b	UTSW	13	113,456,140 (GRCm39)	missense
R7975:Cspg4b	UTSW	13	113,455,841 (GRCm39)	missense
R8017:Cspg4b	UTSW	13	113,456,157 (GRCm39)	missense
R8019:Cspg4b	UTSW	13	113,456,157 (GRCm39)	missense
R8034:Cspg4b	UTSW	13	113,479,045 (GRCm39)	missense
R8101:Cspg4b	UTSW	13	113,457,425 (GRCm39)	missense
R8104:Cspg4b	UTSW	13	113,456,263 (GRCm39)	missense
R8122:Cspg4b	UTSW	13	113,455,442 (GRCm39)	missense
R8126:Cspg4b	UTSW	13	113,504,697 (GRCm39)	missense
R8272:Cspg4b	UTSW	13	113,504,889 (GRCm39)	missense
R8679:Cspg4b	UTSW	13	113,488,163 (GRCm39)	missense
R8973:Cspg4b	UTSW	13	113,456,293 (GRCm39)	missense
R9123:Cspg4b	UTSW	13	113,505,374 (GRCm39)	missense
R9125:Cspg4b	UTSW	13	113,505,374 (GRCm39)	missense
R9182:Cspg4b	UTSW	13	113,457,358 (GRCm39)	missense
R9233:Cspg4b	UTSW	13	113,502,754 (GRCm39)	missense
R9264:Cspg4b	UTSW	13	113,456,014 (GRCm39)	missense
R9306:Cspg4b	UTSW	13	113,506,010 (GRCm39)	missense	unknown
R9327:Cspg4b	UTSW	13	113,453,710 (GRCm39)	missense
R9411:Cspg4b	UTSW	13	113,504,767 (GRCm39)	missense
R9516:Cspg4b	UTSW	13	113,455,649 (GRCm39)	missense
R9562:Cspg4b	UTSW	13	113,504,574 (GRCm39)	missense
R9605:Cspg4b	UTSW	13	113,456,503 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CATCAATAACGCTCAGGTGTGG -3'
(R):5'- CCGTTGTAAACAGTGAGACCC -3'

Sequencing Primer
(F):5'- CAATAACGCTCAGGTGTGGTTCATAC -3'
(R):5'- TTGTAAACAGTGAGACCCTCAGCTG -3'

Posted On

2018-04-02