Mutagenetix > Incidental Mutation

Incidental Mutation 'R7492:Pcdhb11'

580884

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb11

Ensembl Gene

ENSMUSG00000051486

Gene Name

protocadherin beta 11

Synonyms

PcdhbK, Pcdhb5E

MMRRC Submission

045566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37554471-37558085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37556497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 609 (T609M)

Ref Sequence

ENSEMBL: ENSMUSP00000056148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053073] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91UZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000053073
AA Change: T609M

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

SMART Domains

Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: T609M

Domain	Start	End	E-Value	Type
CA	54	131	3.51e-1	SMART
CA	155	240	4.11e-21	SMART
CA	264	344	6.37e-27	SMART
CA	367	448	4.79e-22	SMART
CA	472	558	7.31e-27	SMART
CA	588	669	2.46e-10	SMART
Pfam:Cadherin_C_2	686	769	3.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,560 (GRCm39)	D819G	possibly damaging	Het
Abca13	A	T	11: 9,243,167 (GRCm39)	I1677L	probably benign	Het
Ablim2	A	G	5: 35,998,673 (GRCm39)	S367G	probably benign	Het
Afdn	G	C	17: 14,068,638 (GRCm39)		probably null	Het
Aldh6a1	A	G	12: 84,483,640 (GRCm39)	L302P	probably damaging	Het
Ank3	A	G	10: 69,718,357 (GRCm39)	D536G	unknown	Het
Ankrd17	A	G	5: 90,381,807 (GRCm39)	V2454A	possibly damaging	Het
Apol7e	G	A	15: 77,601,656 (GRCm39)	E85K	possibly damaging	Het
Atmin	A	G	8: 117,683,657 (GRCm39)	D439G	probably damaging	Het
AU040320	G	T	4: 126,741,648 (GRCm39)	C952F	possibly damaging	Het
Btbd8	G	A	5: 107,658,373 (GRCm39)	E1648K	probably benign	Het
C6	A	G	15: 4,761,196 (GRCm39)	S19G	probably benign	Het
Ccdc180	A	T	4: 45,930,009 (GRCm39)		probably null	Het
Cntn1	A	C	15: 92,212,423 (GRCm39)	T862P	probably benign	Het
Col5a1	T	C	2: 27,859,812 (GRCm39)		probably null	Het
D430041D05Rik	T	C	2: 104,031,650 (GRCm39)	K964E	probably damaging	Het
Dnajc18	T	C	18: 35,819,846 (GRCm39)	Y145C	probably damaging	Het
Dsc1	C	T	18: 20,240,737 (GRCm39)	C196Y	possibly damaging	Het
Efcab11	A	C	12: 99,844,660 (GRCm39)	I58R	possibly damaging	Het
Fam81b	T	A	13: 76,419,398 (GRCm39)	I51F	probably benign	Het
Fbln1	G	A	15: 85,111,262 (GRCm39)	V139M	probably damaging	Het
Fbxw25	A	G	9: 109,493,598 (GRCm39)		probably null	Het
Fech	C	T	18: 64,600,842 (GRCm39)	W220*	probably null	Het
Fgl1	C	T	8: 41,644,624 (GRCm39)	W293*	probably null	Het
Firrm	A	G	1: 163,786,897 (GRCm39)	I724T	probably benign	Het
Foxi2	T	C	7: 135,012,301 (GRCm39)	L63P	probably damaging	Het
Frmpd1	A	G	4: 45,285,237 (GRCm39)	R1353G	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Galnt5	T	A	2: 57,916,048 (GRCm39)		probably null	Het
Glb1	A	T	9: 114,303,017 (GRCm39)	I618F	probably damaging	Het
Hs2st1	A	T	3: 144,141,357 (GRCm39)	M237K	probably benign	Het
Ighm	T	C	12: 113,386,293 (GRCm39)	D19G		Het
Il1f10	A	G	2: 24,182,829 (GRCm39)	D35G	probably benign	Het
Itpr2	G	A	6: 146,292,436 (GRCm39)	T419I	probably damaging	Het
Khdc1a	A	T	1: 21,420,542 (GRCm39)	E54V	possibly damaging	Het
Kif19a	A	G	11: 114,681,065 (GRCm39)	D991G	probably benign	Het
Klhl18	A	C	9: 110,257,843 (GRCm39)	Y532*	probably null	Het
Lama1	T	C	17: 68,124,646 (GRCm39)	F2902S		Het
Lrba	T	C	3: 86,571,835 (GRCm39)	S2380P	probably damaging	Het
Lrp2	T	A	2: 69,367,925 (GRCm39)	I196F	probably damaging	Het
Macf1	T	C	4: 123,369,524 (GRCm39)	K1746E	possibly damaging	Het
Megf10	T	C	18: 57,424,866 (GRCm39)	Y1002H	probably benign	Het
Megf8	A	G	7: 25,053,273 (GRCm39)	T1815A	probably benign	Het
Mtg1	T	C	7: 139,724,610 (GRCm39)	L162P	probably damaging	Het
Myo6	T	A	9: 80,195,328 (GRCm39)	Y899*	probably null	Het
Nlrp9a	A	T	7: 26,257,081 (GRCm39)	D233V	probably damaging	Het
Or10al6	A	T	17: 38,082,571 (GRCm39)	Q9L	possibly damaging	Het
Or2z2	T	A	11: 58,346,715 (GRCm39)	N20I	probably benign	Het
Or4k45	C	A	2: 111,395,166 (GRCm39)	V208L	probably benign	Het
Or6c201	T	A	10: 128,969,509 (GRCm39)	I43F	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,063 (GRCm39)	N284I	unknown	Het
Parvb	A	T	15: 84,174,651 (GRCm39)	Q148L	probably damaging	Het
Pcdhga3	A	T	18: 37,809,178 (GRCm39)	T544S	probably benign	Het
Pkd1	C	G	17: 24,788,715 (GRCm39)	I824M	probably benign	Het
Pkd1l2	A	T	8: 117,794,849 (GRCm39)	L370Q	probably damaging	Het
Plcb1	G	T	2: 135,093,684 (GRCm39)	E166*	probably null	Het
Pnpt1	A	G	11: 29,085,522 (GRCm39)	I138V	probably benign	Het
Pou4f3	T	C	18: 42,528,996 (GRCm39)	L313P	probably damaging	Het
Pramel21	C	A	4: 143,342,744 (GRCm39)	Q284K	not run	Het
Prep	A	G	10: 44,996,910 (GRCm39)	Y396C	probably damaging	Het
Prkd3	A	T	17: 79,269,974 (GRCm39)	C562*	probably null	Het
Prss12	T	A	3: 123,276,425 (GRCm39)	C351*	probably null	Het
Rnf41	C	A	10: 128,274,283 (GRCm39)	H312N	probably damaging	Het
Ror1	C	T	4: 100,298,256 (GRCm39)	T543I	probably benign	Het
Rreb1	G	A	13: 38,115,724 (GRCm39)	V1028I	probably benign	Het
Setd2	T	A	9: 110,423,700 (GRCm39)	S474T		Het
Slc1a2	T	A	2: 102,570,275 (GRCm39)	C184*	probably null	Het
Slc2a4	G	A	11: 69,837,202 (GRCm39)	T78I	probably benign	Het
Slc4a4	T	A	5: 89,277,509 (GRCm39)	I317N	possibly damaging	Het
Smad9	G	A	3: 54,693,747 (GRCm39)		probably null	Het
Sst	T	C	16: 23,708,576 (GRCm39)	E85G	probably damaging	Het
Sting1	T	C	18: 35,871,766 (GRCm39)	Y162C	probably damaging	Het
Svep1	T	G	4: 58,066,468 (GRCm39)	E3205D	possibly damaging	Het
Tmc7	G	T	7: 118,141,189 (GRCm39)	S647R	probably benign	Het
Trnt1	T	C	6: 106,751,493 (GRCm39)	S157P	possibly damaging	Het
Ttc6	A	T	12: 57,719,922 (GRCm39)	H831L	probably benign	Het
Vmn1r121	A	G	7: 20,832,095 (GRCm39)	F115S	probably damaging	Het
Vwa7	A	G	17: 35,238,020 (GRCm39)	D207G	possibly damaging	Het
Vwde	C	A	6: 13,204,980 (GRCm39)	K300N	probably null	Het
Zfp418	A	G	7: 7,184,396 (GRCm39)	T120A	possibly damaging	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	Het

Other mutations in Pcdhb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Pcdhb11	APN	18	37,555,026 (GRCm39)	missense	probably benign	0.00
IGL00906:Pcdhb11	APN	18	37,555,174 (GRCm39)	missense	possibly damaging	0.67
IGL01610:Pcdhb11	APN	18	37,556,412 (GRCm39)	missense	probably benign	0.00
IGL01973:Pcdhb11	APN	18	37,556,565 (GRCm39)	missense	probably damaging	1.00
IGL01977:Pcdhb11	APN	18	37,555,344 (GRCm39)	missense	possibly damaging	0.49
IGL02164:Pcdhb11	APN	18	37,556,412 (GRCm39)	missense	probably benign	0.00
IGL02282:Pcdhb11	APN	18	37,556,881 (GRCm39)	missense	probably damaging	1.00
IGL02674:Pcdhb11	APN	18	37,556,667 (GRCm39)	missense	probably damaging	1.00
IGL02965:Pcdhb11	APN	18	37,557,021 (GRCm39)	missense	probably benign
IGL03197:Pcdhb11	APN	18	37,555,477 (GRCm39)	nonsense	probably null
1mM(1):Pcdhb11	UTSW	18	37,557,010 (GRCm39)	missense	probably benign	0.00
R0001:Pcdhb11	UTSW	18	37,557,042 (GRCm39)	missense	probably benign	0.06
R0383:Pcdhb11	UTSW	18	37,556,446 (GRCm39)	missense	probably damaging	1.00
R0421:Pcdhb11	UTSW	18	37,555,533 (GRCm39)	missense	probably benign	0.04
R0422:Pcdhb11	UTSW	18	37,554,923 (GRCm39)	missense	probably damaging	1.00
R0427:Pcdhb11	UTSW	18	37,555,818 (GRCm39)	missense	probably damaging	1.00
R0542:Pcdhb11	UTSW	18	37,556,887 (GRCm39)	missense	probably damaging	1.00
R0620:Pcdhb11	UTSW	18	37,554,864 (GRCm39)	nonsense	probably null
R1014:Pcdhb11	UTSW	18	37,556,422 (GRCm39)	missense	probably damaging	1.00
R1277:Pcdhb11	UTSW	18	37,554,769 (GRCm39)	missense	possibly damaging	0.79
R2034:Pcdhb11	UTSW	18	37,555,546 (GRCm39)	missense	probably benign	0.00
R2142:Pcdhb11	UTSW	18	37,555,176 (GRCm39)	missense	probably benign	0.28
R2496:Pcdhb11	UTSW	18	37,555,375 (GRCm39)	missense	probably benign	0.30
R3077:Pcdhb11	UTSW	18	37,555,297 (GRCm39)	missense	probably benign	0.08
R4560:Pcdhb11	UTSW	18	37,556,787 (GRCm39)	missense	possibly damaging	0.61
R4590:Pcdhb11	UTSW	18	37,555,549 (GRCm39)	missense	probably damaging	0.98
R4642:Pcdhb11	UTSW	18	37,555,021 (GRCm39)	missense	probably benign	0.01
R4729:Pcdhb11	UTSW	18	37,555,419 (GRCm39)	nonsense	probably null
R5012:Pcdhb11	UTSW	18	37,556,029 (GRCm39)	missense	possibly damaging	0.48
R5364:Pcdhb11	UTSW	18	37,555,232 (GRCm39)	missense	probably benign	0.06
R5910:Pcdhb11	UTSW	18	37,556,796 (GRCm39)	missense	probably benign	0.43
R6023:Pcdhb11	UTSW	18	37,555,978 (GRCm39)	missense	possibly damaging	0.94
R6106:Pcdhb11	UTSW	18	37,556,056 (GRCm39)	missense	probably damaging	1.00
R6254:Pcdhb11	UTSW	18	37,554,771 (GRCm39)	missense	probably damaging	0.99
R6276:Pcdhb11	UTSW	18	37,554,813 (GRCm39)	missense	probably benign	0.36
R6360:Pcdhb11	UTSW	18	37,555,212 (GRCm39)	missense	probably benign
R6699:Pcdhb11	UTSW	18	37,555,990 (GRCm39)	missense	probably damaging	1.00
R6732:Pcdhb11	UTSW	18	37,555,197 (GRCm39)	missense	probably benign
R6760:Pcdhb11	UTSW	18	37,554,637 (GRCm39)	intron	probably benign
R6916:Pcdhb11	UTSW	18	37,555,434 (GRCm39)	missense	possibly damaging	0.52
R7130:Pcdhb11	UTSW	18	37,556,559 (GRCm39)	missense	probably benign	0.04
R7267:Pcdhb11	UTSW	18	37,555,006 (GRCm39)	missense	possibly damaging	0.61
R7426:Pcdhb11	UTSW	18	37,556,313 (GRCm39)	missense	probably damaging	0.99
R7444:Pcdhb11	UTSW	18	37,555,672 (GRCm39)	missense	probably damaging	0.98
R7504:Pcdhb11	UTSW	18	37,554,852 (GRCm39)	missense	probably benign
R7537:Pcdhb11	UTSW	18	37,554,672 (GRCm39)	start codon destroyed	possibly damaging	0.88
R7728:Pcdhb11	UTSW	18	37,556,530 (GRCm39)	missense	probably damaging	1.00
R7817:Pcdhb11	UTSW	18	37,556,962 (GRCm39)	missense	probably damaging	1.00
R8071:Pcdhb11	UTSW	18	37,555,422 (GRCm39)	missense	probably benign	0.02
R8229:Pcdhb11	UTSW	18	37,555,671 (GRCm39)	missense	probably benign	0.00
R8254:Pcdhb11	UTSW	18	37,555,242 (GRCm39)	missense	probably benign	0.45
R8356:Pcdhb11	UTSW	18	37,555,252 (GRCm39)	missense	probably damaging	1.00
R8739:Pcdhb11	UTSW	18	37,555,549 (GRCm39)	missense	probably damaging	1.00
R8957:Pcdhb11	UTSW	18	37,555,872 (GRCm39)	missense	probably benign	0.09
R8957:Pcdhb11	UTSW	18	37,554,692 (GRCm39)	missense	probably benign	0.43
R8964:Pcdhb11	UTSW	18	37,556,660 (GRCm39)	missense	probably benign	0.00
R8966:Pcdhb11	UTSW	18	37,556,037 (GRCm39)	missense	possibly damaging	0.67
R9188:Pcdhb11	UTSW	18	37,556,188 (GRCm39)	missense	probably damaging	1.00
R9253:Pcdhb11	UTSW	18	37,554,529 (GRCm39)	intron	probably benign
R9632:Pcdhb11	UTSW	18	37,556,019 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATGACAATGACAATGCGC -3'
(R):5'- TCTCCATCCTCCTGAATGGG -3'

Sequencing Primer
(F):5'- AATGACAATGCGCCCTTCGTG -3'
(R):5'- ATCCTCCTGAATGGGGTCCTG -3'

Posted On

2019-10-17