Mutagenetix > Incidental Mutation

Incidental Mutation 'R7044:Cdhr2'

547223

Institutional Source

Beutler Lab

Gene Symbol

Cdhr2

Ensembl Gene

ENSMUSG00000034918

Gene Name

cadherin-related family member 2

Synonyms

LOC268663, Pcdh24

MMRRC Submission

045143-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54701461-54736662 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 54733321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1066 (K1066*)

Ref Sequence

ENSEMBL: ENSMUSP00000043596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037145] [ENSMUST00000099506] [ENSMUST00000135343]

AlphaFold

E9Q7P9

Predicted Effect

probably null
Transcript: ENSMUST00000037145
AA Change: K1066*

SMART Domains

Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: K1066*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
CA	48	122	8.62e-15	SMART
CA	146	239	1.4e-2	SMART
CA	263	351	2.19e-16	SMART
CA	391	478	4.22e-9	SMART
CA	503	584	2.15e-24	SMART
CA	605	693	6.78e-22	SMART
CA	715	805	1.78e-16	SMART
CA	830	925	7.57e-11	SMART
CA	950	1042	7.1e-2	SMART
low complexity region	1121	1147	N/A	INTRINSIC
transmembrane domain	1153	1175	N/A	INTRINSIC
low complexity region	1195	1209	N/A	INTRINSIC
low complexity region	1234	1250	N/A	INTRINSIC
low complexity region	1264	1277	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099506

SMART Domains

Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
internal_repeat_1	80	256	2.14e-7	PROSPERO
internal_repeat_2	95	267	4.89e-7	PROSPERO
low complexity region	314	324	N/A	INTRINSIC
low complexity region	424	443	N/A	INTRINSIC
internal_repeat_2	448	620	4.89e-7	PROSPERO
internal_repeat_1	457	643	2.14e-7	PROSPERO
low complexity region	684	703	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
Pfam:GRIN_C	790	929	4.2e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135343

SMART Domains

Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
internal_repeat_1	80	256	2.14e-7	PROSPERO
internal_repeat_2	95	267	4.89e-7	PROSPERO
low complexity region	314	324	N/A	INTRINSIC
low complexity region	424	443	N/A	INTRINSIC
internal_repeat_2	448	620	4.89e-7	PROSPERO
internal_repeat_1	457	643	2.14e-7	PROSPERO
low complexity region	684	703	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
Pfam:GRIN_C	787	932	2.6e-49	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (40/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd6	T	A	4: 32,815,260 (GRCm38)	Q448L	possibly damaging	Het
Appl1	A	G	14: 26,928,677 (GRCm38)	S513P	possibly damaging	Het
Ckap5	T	C	2: 91,577,601 (GRCm38)	I824T	probably benign	Het
Cracdl	C	T	1: 37,612,280 (GRCm38)	D1169N	possibly damaging	Het
Ctbp2	T	C	7: 133,015,102 (GRCm38)	R35G	possibly damaging	Het
Dcdc2c	T	C	12: 28,470,494 (GRCm38)		probably benign	Het
Eya1	T	A	1: 14,231,410 (GRCm38)		probably null	Het
Fat4	G	C	3: 39,010,810 (GRCm38)	A4972P	probably benign	Het
Fat4	C	T	3: 39,010,811 (GRCm38)	A4972V	probably benign	Het
Fbxl8	T	A	8: 105,267,015 (GRCm38)	M1K	probably null	Het
Glyat	T	C	19: 12,650,265 (GRCm38)	S75P	probably benign	Het
Gm3543	T	A	14: 41,980,066 (GRCm38)	I154F	probably damaging	Het
Gm4565	T	A	7: 22,583,370 (GRCm38)	M8L	probably benign	Het
Gpr179	T	C	11: 97,349,790 (GRCm38)	Q269R	probably benign	Het
Hjv	C	A	3: 96,527,474 (GRCm38)	H176Q	possibly damaging	Het
Ikzf2	T	C	1: 69,538,901 (GRCm38)	H483R	possibly damaging	Het
Il25	G	A	14: 54,933,158 (GRCm38)	A63T	probably benign	Het
Krt27	T	A	11: 99,346,814 (GRCm38)	N366I	probably benign	Het
Mfge8	A	G	7: 79,142,520 (GRCm38)	V219A	probably benign	Het
Nrbp1	T	C	5: 31,249,946 (GRCm38)	V373A	probably damaging	Het
Or4c100	A	G	2: 88,526,486 (GRCm38)	N301S	probably benign	Het
Otulinl	A	G	15: 27,657,235 (GRCm38)		probably benign	Het
Pcdh20	A	G	14: 88,469,171 (GRCm38)	I231T	probably damaging	Het
Pfkp	A	G	13: 6,581,567 (GRCm38)	W151R	probably damaging	Het
Pikfyve	T	C	1: 65,246,854 (GRCm38)	I1084T	probably benign	Het
Poteg	T	C	8: 27,449,895 (GRCm38)	C27R	probably damaging	Het
Ptprz1	G	A	6: 23,044,346 (GRCm38)	V1266M	probably damaging	Het
Rpa1	T	C	11: 75,312,802 (GRCm38)	D358G	probably damaging	Het
Slx9	T	C	10: 77,514,392 (GRCm38)	D35G	possibly damaging	Het
Snapc4	A	G	2: 26,369,953 (GRCm38)	S495P	probably damaging	Het
Surf6	A	G	2: 26,899,356 (GRCm38)	I123T	probably damaging	Het
Sybu	A	T	15: 44,677,695 (GRCm38)	S324T	possibly damaging	Het
Trim3	A	T	7: 105,618,214 (GRCm38)	S319R	probably damaging	Het
Trmt11	A	G	10: 30,590,934 (GRCm38)	F72L	probably benign	Het
Tsks	C	T	7: 44,943,792 (GRCm38)	R61W	probably damaging	Het
Ube2k	T	C	5: 65,581,429 (GRCm38)	V36A	possibly damaging	Het
Ube3a	T	C	7: 59,288,413 (GRCm38)	V688A	probably damaging	Het
Vegfc	A	G	8: 54,157,045 (GRCm38)	K79E	possibly damaging	Het
Vmn1r77	G	A	7: 12,041,834 (GRCm38)	R179Q	probably benign	Het
Vmn2r97	T	A	17: 18,914,367 (GRCm38)	F16I	probably benign	Het
Zfp451	A	T	1: 33,802,167 (GRCm38)		probably benign	Het
Zfp600	C	T	4: 146,195,322 (GRCm38)	Q187*	probably null	Het

Other mutations in Cdhr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Cdhr2	APN	13	54,718,299 (GRCm38)	missense	probably damaging	1.00
IGL00596:Cdhr2	APN	13	54,720,997 (GRCm38)	missense	probably damaging	0.97
IGL00840:Cdhr2	APN	13	54,720,152 (GRCm38)	missense	probably damaging	0.96
IGL00956:Cdhr2	APN	13	54,718,343 (GRCm38)	missense	probably damaging	1.00
IGL01101:Cdhr2	APN	13	54,718,135 (GRCm38)	splice site	probably benign
IGL01150:Cdhr2	APN	13	54,731,118 (GRCm38)	missense	probably benign
IGL01412:Cdhr2	APN	13	54,725,894 (GRCm38)	missense	probably damaging	1.00
IGL01515:Cdhr2	APN	13	54,718,238 (GRCm38)	missense	probably benign	0.17
IGL02005:Cdhr2	APN	13	54,719,763 (GRCm38)	missense	probably benign	0.00
IGL02187:Cdhr2	APN	13	54,733,710 (GRCm38)	missense	possibly damaging	0.86
IGL02312:Cdhr2	APN	13	54,717,888 (GRCm38)	missense	probably null	0.97
IGL02877:Cdhr2	APN	13	54,734,737 (GRCm38)	missense	probably benign	0.39
IGL03072:Cdhr2	APN	13	54,726,661 (GRCm38)	missense	probably benign	0.00
IGL03263:Cdhr2	APN	13	54,718,113 (GRCm38)	missense	possibly damaging	0.75
FR4449:Cdhr2	UTSW	13	54,725,924 (GRCm38)	small insertion	probably benign
PIT4494001:Cdhr2	UTSW	13	54,718,442 (GRCm38)	critical splice acceptor site	probably null
PIT4498001:Cdhr2	UTSW	13	54,718,239 (GRCm38)	missense	possibly damaging	0.75
R0041:Cdhr2	UTSW	13	54,726,838 (GRCm38)	missense	probably damaging	1.00
R0149:Cdhr2	UTSW	13	54,734,007 (GRCm38)	missense	probably damaging	1.00
R0329:Cdhr2	UTSW	13	54,734,801 (GRCm38)	unclassified	probably benign
R0361:Cdhr2	UTSW	13	54,734,007 (GRCm38)	missense	probably damaging	1.00
R0365:Cdhr2	UTSW	13	54,718,292 (GRCm38)	missense	probably benign	0.00
R0598:Cdhr2	UTSW	13	54,726,739 (GRCm38)	missense	probably damaging	1.00
R0774:Cdhr2	UTSW	13	54,717,855 (GRCm38)	missense	probably damaging	1.00
R1330:Cdhr2	UTSW	13	54,734,268 (GRCm38)	missense	possibly damaging	0.67
R1458:Cdhr2	UTSW	13	54,717,872 (GRCm38)	missense	probably damaging	0.99
R1659:Cdhr2	UTSW	13	54,719,761 (GRCm38)	missense	probably damaging	1.00
R1698:Cdhr2	UTSW	13	54,719,581 (GRCm38)	missense	probably benign	0.00
R2061:Cdhr2	UTSW	13	54,720,818 (GRCm38)	missense	probably damaging	1.00
R2098:Cdhr2	UTSW	13	54,715,644 (GRCm38)	missense	probably benign	0.15
R2135:Cdhr2	UTSW	13	54,720,947 (GRCm38)	missense	probably damaging	1.00
R2365:Cdhr2	UTSW	13	54,718,088 (GRCm38)	missense	probably benign	0.01
R3693:Cdhr2	UTSW	13	54,726,416 (GRCm38)	missense	probably damaging	1.00
R3968:Cdhr2	UTSW	13	54,726,458 (GRCm38)	missense	probably damaging	1.00
R3970:Cdhr2	UTSW	13	54,726,458 (GRCm38)	missense	probably damaging	1.00
R4001:Cdhr2	UTSW	13	54,718,266 (GRCm38)	missense	probably benign	0.09
R4003:Cdhr2	UTSW	13	54,718,266 (GRCm38)	missense	probably benign	0.09
R4030:Cdhr2	UTSW	13	54,717,861 (GRCm38)	missense	probably damaging	1.00
R4088:Cdhr2	UTSW	13	54,717,888 (GRCm38)	missense	probably null	0.97
R4256:Cdhr2	UTSW	13	54,714,005 (GRCm38)	missense	probably damaging	0.99
R4322:Cdhr2	UTSW	13	54,733,721 (GRCm38)	missense	probably benign	0.00
R4396:Cdhr2	UTSW	13	54,715,665 (GRCm38)	missense	probably damaging	0.99
R4591:Cdhr2	UTSW	13	54,715,684 (GRCm38)	missense	probably benign	0.18
R4726:Cdhr2	UTSW	13	54,718,539 (GRCm38)	missense	probably damaging	0.99
R5370:Cdhr2	UTSW	13	54,720,887 (GRCm38)	missense	probably damaging	1.00
R5396:Cdhr2	UTSW	13	54,736,456 (GRCm38)	missense	probably benign
R5447:Cdhr2	UTSW	13	54,733,250 (GRCm38)	missense	probably damaging	1.00
R5654:Cdhr2	UTSW	13	54,736,536 (GRCm38)	missense	probably benign
R5727:Cdhr2	UTSW	13	54,724,308 (GRCm38)	missense	possibly damaging	0.95
R5771:Cdhr2	UTSW	13	54,726,695 (GRCm38)	missense	probably damaging	0.99
R5924:Cdhr2	UTSW	13	54,726,683 (GRCm38)	missense	probably benign	0.01
R5928:Cdhr2	UTSW	13	54,734,019 (GRCm38)	missense	probably benign	0.01
R6246:Cdhr2	UTSW	13	54,719,710 (GRCm38)	missense	probably damaging	1.00
R6351:Cdhr2	UTSW	13	54,726,776 (GRCm38)	missense	probably benign	0.16
R6358:Cdhr2	UTSW	13	54,736,546 (GRCm38)	missense	probably damaging	0.99
R6433:Cdhr2	UTSW	13	54,718,512 (GRCm38)	missense	probably damaging	0.97
R7341:Cdhr2	UTSW	13	54,719,492 (GRCm38)	missense	probably damaging	0.99
R7462:Cdhr2	UTSW	13	54,726,739 (GRCm38)	missense	probably damaging	1.00
R7488:Cdhr2	UTSW	13	54,717,915 (GRCm38)	missense	probably benign	0.28
R7763:Cdhr2	UTSW	13	54,717,692 (GRCm38)	missense	probably damaging	1.00
R7771:Cdhr2	UTSW	13	54,718,275 (GRCm38)	missense	probably damaging	1.00
R8050:Cdhr2	UTSW	13	54,734,222 (GRCm38)	missense	probably damaging	0.96
R8069:Cdhr2	UTSW	13	54,731,070 (GRCm38)	missense	probably damaging	1.00
R8070:Cdhr2	UTSW	13	54,719,793 (GRCm38)	missense	probably benign	0.13
R8129:Cdhr2	UTSW	13	54,716,395 (GRCm38)	splice site	probably null
R8829:Cdhr2	UTSW	13	54,718,117 (GRCm38)	missense	probably damaging	1.00
R8915:Cdhr2	UTSW	13	54,726,371 (GRCm38)	missense	probably benign	0.31
R9050:Cdhr2	UTSW	13	54,735,320 (GRCm38)	missense	probably benign	0.19
R9113:Cdhr2	UTSW	13	54,734,887 (GRCm38)	missense	probably benign	0.22
R9205:Cdhr2	UTSW	13	54,713,988 (GRCm38)	missense	probably benign	0.45
R9281:Cdhr2	UTSW	13	54,733,890 (GRCm38)	missense	possibly damaging	0.78
R9290:Cdhr2	UTSW	13	54,734,196 (GRCm38)	missense	possibly damaging	0.93
R9621:Cdhr2	UTSW	13	54,718,537 (GRCm38)	missense
R9647:Cdhr2	UTSW	13	54,719,581 (GRCm38)	missense	probably benign	0.00
R9697:Cdhr2	UTSW	13	54,719,866 (GRCm38)	missense	probably damaging	1.00
R9736:Cdhr2	UTSW	13	54,724,228 (GRCm38)	missense	possibly damaging	0.84
Z1177:Cdhr2	UTSW	13	54,726,408 (GRCm38)	missense	probably benign	0.00
Z1177:Cdhr2	UTSW	13	54,718,564 (GRCm38)	missense	probably damaging	1.00
Z1177:Cdhr2	UTSW	13	54,715,671 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGTGCATGTGCTGTCAC -3'
(R):5'- CTCTGCACAAATCAGAAATGGCAG -3'

Sequencing Primer
(F):5'- ACAGCGGCTGTGTGTCCTG -3'
(R):5'- AGAAATGGCAGTTCTTTTTCCCG -3'

Posted On

2019-05-13