Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:Cspg4b'

158325

Institutional Source

Beutler Lab

Gene Symbol

Cspg4b

Ensembl Gene

ENSMUSG00000021763

Gene Name

chondroitin sulfate proteoglycan 4B

Synonyms

BC067074

MMRRC Submission

039366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113429570-113507049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113502694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 133 (F133S)

Ref Sequence

ENSEMBL: ENSMUSP00000077297 (fasta)

Gene Model

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

AlphaFold

F6RXI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000078163
AA Change: F133S

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

SMART Domains

Protein: ENSMUSP00000077297
Gene: ENSMUSG00000021763
AA Change: F133S

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

unknown
Transcript: ENSMUST00000135096
AA Change: F80S

SMART Domains

Protein: ENSMUSP00000131959
Gene: ENSMUSG00000021763
AA Change: F80S

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

Predicted Effect

unknown
Transcript: ENSMUST00000136755
AA Change: F1675S

SMART Domains

Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: F1675S

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,283,967 (GRCm39)	I2535T	probably damaging	Het
Adam34l	A	T	8: 44,079,881 (GRCm39)	Y114*	probably null	Het
Ank3	A	G	10: 69,840,495 (GRCm39)	I952V	probably benign	Het
Ankar	A	C	1: 72,682,323 (GRCm39)	V1414G	probably benign	Het
Arl2	A	G	19: 6,191,103 (GRCm39)	M10T	probably benign	Het
Arpp21	A	G	9: 111,972,442 (GRCm39)	I352T	probably damaging	Het
Cacna1e	T	A	1: 154,274,419 (GRCm39)	H2162L	probably benign	Het
Cep170b	A	C	12: 112,703,691 (GRCm39)	M622L	probably benign	Het
Cped1	T	C	6: 22,119,552 (GRCm39)	V337A	probably benign	Het
Cpn2	T	A	16: 30,078,481 (GRCm39)	T407S	probably benign	Het
Cpne4	T	C	9: 104,870,333 (GRCm39)	W263R	probably damaging	Het
Crtc1	A	G	8: 70,840,189 (GRCm39)		probably null	Het
Dennd5a	A	T	7: 109,518,614 (GRCm39)	I485N	probably benign	Het
Dnah6	T	C	6: 73,101,692 (GRCm39)	Q1892R	probably benign	Het
Dse	G	A	10: 34,028,411 (GRCm39)	A893V	probably benign	Het
Dsg1a	T	G	18: 20,465,206 (GRCm39)	S466A	probably benign	Het
Dstyk	T	C	1: 132,377,651 (GRCm39)	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,294,464 (GRCm39)	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,821,426 (GRCm39)	G2576C	probably damaging	Het
Eps15l1	A	T	8: 73,145,746 (GRCm39)	D162E	probably damaging	Het
Fstl4	C	A	11: 52,959,454 (GRCm39)	T165N	probably benign	Het
Gm8674	T	C	13: 50,055,758 (GRCm39)		noncoding transcript	Het
Gtsf2	T	A	15: 103,352,780 (GRCm39)	L39F	possibly damaging	Het
Hck	A	C	2: 152,976,067 (GRCm39)	D202A	possibly damaging	Het
Il12b	T	A	11: 44,298,903 (GRCm39)		probably null	Het
Irf4	T	C	13: 30,941,568 (GRCm39)	L307P	probably damaging	Het
Keg1	G	A	19: 12,696,368 (GRCm39)	R184Q	probably damaging	Het
Kmt2c	T	C	5: 25,610,452 (GRCm39)	D218G	probably damaging	Het
Map1b	T	C	13: 99,569,029 (GRCm39)	K1231E	unknown	Het
Mapkbp1	T	C	2: 119,844,136 (GRCm39)	Y293H	probably benign	Het
Mfsd8	A	T	3: 40,778,333 (GRCm39)	D310E	probably benign	Het
Mmp9	A	T	2: 164,790,876 (GRCm39)	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,370,666 (GRCm39)	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,209,065 (GRCm39)	I110F	probably damaging	Het
Neu1	A	T	17: 35,153,314 (GRCm39)	Y279F	possibly damaging	Het
Nhsl1	A	G	10: 18,284,209 (GRCm39)	H50R	probably benign	Het
Nlrp3	C	T	11: 59,446,594 (GRCm39)	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,177,859 (GRCm39)	D517A	probably damaging	Het
Or14c43	T	C	7: 86,114,951 (GRCm39)	F111L	probably benign	Het
Or1e32	T	C	11: 73,705,072 (GRCm39)	T279A	probably benign	Het
Or2z2	T	C	11: 58,346,667 (GRCm39)	Y36C	probably damaging	Het
Or52e3	G	A	7: 102,869,324 (GRCm39)	R133Q	probably benign	Het
P3h2	C	A	16: 25,815,986 (GRCm39)	E176*	probably null	Het
Parp10	C	A	15: 76,126,190 (GRCm39)	D333Y	possibly damaging	Het
Pcdhb12	C	T	18: 37,570,450 (GRCm39)	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,159,611 (GRCm39)	T818S	possibly damaging	Het
Phf11	A	T	14: 59,488,563 (GRCm39)	V78D	probably damaging	Het
Phip	A	T	9: 82,758,800 (GRCm39)	L1450Q	probably benign	Het
Pinx1	A	G	14: 64,156,859 (GRCm39)	E262G	probably benign	Het
Ppargc1a	T	C	5: 51,706,014 (GRCm39)	E19G	probably damaging	Het
Pum1	T	C	4: 130,493,272 (GRCm39)	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,908 (GRCm39)	H106L	probably benign	Het
Slc10a6	T	C	5: 103,754,550 (GRCm39)	D327G	probably benign	Het
Syt1	A	T	10: 108,467,682 (GRCm39)	V205D	possibly damaging	Het
Tep1	C	T	14: 51,064,512 (GRCm39)		probably null	Het
Thnsl2	T	A	6: 71,111,175 (GRCm39)	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,524,763 (GRCm39)	H304L	probably damaging	Het
Unc5c	G	A	3: 141,534,304 (GRCm39)	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,002,704 (GRCm39)	E506G	probably benign	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
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
R6317:Cspg4b	UTSW	13	113,504,802 (GRCm39)	missense	probably benign	0.09
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'- TTGCTGTGAAGAGGAGGTCACCAC -3'
(R):5'- GGCTGTAACTGTGTCCGTCTTATCC -3'

Sequencing Primer
(F):5'- AGCATGAGTATAGTAAGCCCTAC -3'
(R):5'- CCGTCTTATCCCAGAGGATGAATG -3'

Posted On

2014-02-18