Mutagenetix > Incidental Mutation

Incidental Mutation 'R4780:Cd44'

366382

Institutional Source

Beutler Lab

Gene Symbol

Cd44

Ensembl Gene

ENSMUSG00000005087

Gene Name

CD44 antigen

Synonyms

Pgp-1, Ly-24, HERMES

MMRRC Submission

041993-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R4780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102641486-102732010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102691910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 126 (A126D)

Ref Sequence

ENSEMBL: ENSMUSP00000097265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005218] [ENSMUST00000060516] [ENSMUST00000099673] [ENSMUST00000111190] [ENSMUST00000111191] [ENSMUST00000111192] [ENSMUST00000111194] [ENSMUST00000111198]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005218
AA Change: A126D

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000005218
Gene: ENSMUSG00000005087
AA Change: A126D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	251	276	N/A	INTRINSIC
low complexity region	429	439	N/A	INTRINSIC
low complexity region	640	653	N/A	INTRINSIC
low complexity region	689	703	N/A	INTRINSIC
PDB:2ZPY\|B	710	729	1e-6	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060516
AA Change: A126D

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062330
Gene: ENSMUSG00000005087
AA Change: A126D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	229	239	N/A	INTRINSIC
low complexity region	440	453	N/A	INTRINSIC
low complexity region	489	503	N/A	INTRINSIC
PDB:2ZPY\|B	510	529	1e-6	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000099673
AA Change: A126D

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

SMART Domains

Protein: ENSMUSP00000097265
Gene: ENSMUSG00000005087
AA Change: A126D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	225	238	N/A	INTRINSIC
low complexity region	274	288	N/A	INTRINSIC
PDB:2ZPY\|B	295	314	1e-6	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111190
AA Change: A126D

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106821
Gene: ENSMUSG00000005087
AA Change: A126D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	324	337	N/A	INTRINSIC
low complexity region	373	387	N/A	INTRINSIC
PDB:2ZPY\|B	394	413	8e-7	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111191
AA Change: A126D

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106822
Gene: ENSMUSG00000005087
AA Change: A126D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	358	371	N/A	INTRINSIC
low complexity region	407	421	N/A	INTRINSIC
PDB:2ZPY\|B	428	447	9e-7	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000111192
AA Change: A126D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106823
Gene: ENSMUSG00000005087
AA Change: A126D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	294	307	N/A	INTRINSIC
low complexity region	343	357	N/A	INTRINSIC
PDB:2ZPY\|B	364	383	1e-6	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000111194
AA Change: A126D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106825
Gene: ENSMUSG00000005087
AA Change: A126D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	268	278	N/A	INTRINSIC
low complexity region	302	312	N/A	INTRINSIC
low complexity region	437	450	N/A	INTRINSIC
low complexity region	486	500	N/A	INTRINSIC
PDB:2ZPY\|B	507	526	1e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124624

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111198
AA Change: A126D

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106829
Gene: ENSMUSG00000005087
AA Change: A126D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	306	316	N/A	INTRINSIC
low complexity region	517	530	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
PDB:2ZPY\|B	587	606	1e-6	PDB

Meta Mutation Damage Score

0.2824

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (107/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired T lymphocyte trafficking resulting in muted inflammatory responses, altered myeloid progenitor distribution, reduced growth of tumors, and impaired uterine involution and maintenance of lactation. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(4) Targeted, other(3)

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,131 (GRCm39)	N107D	probably benign	Het
4833413E03Rik	A	C	17: 31,777,738 (GRCm39)		noncoding transcript	Het
4931429L15Rik	G	T	9: 46,220,144 (GRCm39)	H129Q	possibly damaging	Het
A730018C14Rik	A	G	12: 112,382,069 (GRCm39)		noncoding transcript	Het
Abcc6	T	A	7: 45,646,115 (GRCm39)	K791N	probably benign	Het
Adcy4	T	G	14: 56,012,493 (GRCm39)	Q550P	probably benign	Het
Add3	C	A	19: 53,223,223 (GRCm39)	A325E	possibly damaging	Het
Agbl4	T	A	4: 111,514,528 (GRCm39)	I513N	possibly damaging	Het
Agfg1	C	A	1: 82,864,108 (GRCm39)	T392K	probably damaging	Het
Akna	C	A	4: 63,297,491 (GRCm39)	M854I	probably benign	Het
Ankrd44	T	C	1: 54,802,916 (GRCm39)	N194S	probably benign	Het
Anks1b	A	G	10: 89,709,594 (GRCm39)	K21E	probably damaging	Het
Ap1s3	A	G	1: 79,586,889 (GRCm39)	F154L	probably benign	Het
Apbb2	T	A	5: 66,520,160 (GRCm39)	N477I	probably damaging	Het
Apobec3	T	C	15: 79,783,225 (GRCm39)	C101R	possibly damaging	Het
Arnt	G	T	3: 95,395,696 (GRCm39)	V410F	probably damaging	Het
Arsg	G	A	11: 109,424,839 (GRCm39)	R270H	possibly damaging	Het
B3gnt7	T	A	1: 86,232,992 (GRCm39)	D79E	probably damaging	Het
Cd69	A	G	6: 129,248,318 (GRCm39)	I56T	probably damaging	Het
Cep120	G	A	18: 53,857,608 (GRCm39)	P286S	probably benign	Het
Ces2a	T	C	8: 105,463,840 (GRCm39)	F184S	probably damaging	Het
Chrng	A	G	1: 87,135,246 (GRCm39)	N185S	probably damaging	Het
Cldn6	A	T	17: 23,900,221 (GRCm39)	M62L	probably benign	Het
Cntn6	T	A	6: 104,822,745 (GRCm39)	N765K	probably damaging	Het
Cspg4b	A	G	13: 113,454,392 (GRCm39)	Y146C	probably damaging	Het
Ctnnal1	T	C	4: 56,847,857 (GRCm39)	D94G	probably damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Depdc1a	A	G	3: 159,232,343 (GRCm39)	N698S	probably benign	Het
Dnah2	A	T	11: 69,364,697 (GRCm39)	I1986N	probably damaging	Het
Dnah7b	A	G	1: 46,392,174 (GRCm39)	E3845G	probably benign	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Dync1h1	T	C	12: 110,627,630 (GRCm39)	Y4047H	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm39)	P297L	probably benign	Het
E2f5	A	G	3: 14,652,379 (GRCm39)	T72A	probably benign	Het
Ephb6	G	T	6: 41,593,073 (GRCm39)	R437L	probably damaging	Het
Erbb4	T	C	1: 68,337,473 (GRCm39)	H615R	probably damaging	Het
Erbin	T	C	13: 104,020,714 (GRCm39)	T82A	probably damaging	Het
Eri2	T	C	7: 119,384,903 (GRCm39)	N533D	probably benign	Het
Fkbp9	A	G	6: 56,827,701 (GRCm39)	N174S	probably damaging	Het
Fsbp	C	T	4: 11,583,709 (GRCm39)	T136I	possibly damaging	Het
Fubp3	C	A	2: 31,473,223 (GRCm39)	D47E	probably damaging	Het
Gm21850	G	A	2: 153,898,419 (GRCm39)		noncoding transcript	Het
Gm5141	T	A	13: 62,922,764 (GRCm39)	Y135F	unknown	Het
Gm7353	T	A	7: 3,160,725 (GRCm39)		noncoding transcript	Het
Gm9925	T	C	18: 74,198,344 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,541,792 (GRCm39)	S1180P	probably benign	Het
H2ac11	G	A	13: 22,227,079 (GRCm39)	Q7*	probably null	Het
Ift70a2	A	C	2: 75,807,920 (GRCm39)	C197W	probably benign	Het
Kiz	A	G	2: 146,731,166 (GRCm39)	T192A	possibly damaging	Het
Klhl24	T	A	16: 19,925,708 (GRCm39)	C79S	probably damaging	Het
Map3k11	A	G	19: 5,740,966 (GRCm39)	H231R	probably damaging	Het
Mbd4	C	A	6: 115,826,345 (GRCm39)	R194S	probably benign	Het
Mettl21e	A	C	1: 44,250,303 (GRCm39)	S34R	probably benign	Het
Mrps5	T	C	2: 127,440,161 (GRCm39)	V245A	probably benign	Het
Mtrf1	T	C	14: 79,639,128 (GRCm39)	Y87H	probably benign	Het
Myh15	T	C	16: 48,940,420 (GRCm39)	I790T	probably benign	Het
Necab1	T	G	4: 14,989,248 (GRCm39)	I176L	probably benign	Het
Nfkb2	T	A	19: 46,298,361 (GRCm39)	L555Q	probably damaging	Het
Nhlrc3	T	A	3: 53,365,988 (GRCm39)	E168D	probably benign	Het
Nlrp5	T	A	7: 23,135,203 (GRCm39)	C949S	probably damaging	Het
Nup155	C	A	15: 8,187,187 (GRCm39)	A1372E	probably benign	Het
Nynrin	G	T	14: 56,100,720 (GRCm39)	R170L	probably damaging	Het
Ogfrl1	T	A	1: 23,409,402 (GRCm39)	N275Y	probably damaging	Het
Olr1	A	T	6: 129,465,839 (GRCm39)	S56T	probably damaging	Het
Or4k52	A	G	2: 111,611,190 (GRCm39)	D175G	probably damaging	Het
Or5aq1	C	T	2: 86,966,221 (GRCm39)	S148N	probably damaging	Het
Or5b121	A	G	19: 13,507,319 (GRCm39)	N138S	probably benign	Het
Or8b48	A	G	9: 38,493,265 (GRCm39)	T231A	possibly damaging	Het
Ovol2	A	T	2: 144,173,203 (GRCm39)		probably benign	Het
Pcdha6	A	T	18: 37,102,906 (GRCm39)	I700F	probably damaging	Het
Prkcz	C	T	4: 155,374,159 (GRCm39)	V86M	probably damaging	Het
Ptpn13	A	G	5: 103,734,639 (GRCm39)	T2124A	probably benign	Het
Ranbp3	G	T	17: 56,980,346 (GRCm39)		probably benign	Het
Rapgef2	A	G	3: 79,077,076 (GRCm39)		probably benign	Het
Rbl1	A	G	2: 157,016,724 (GRCm39)	V625A	probably benign	Het
Rbm38	G	T	2: 172,863,944 (GRCm39)	G38C	probably damaging	Het
Reg1	T	G	6: 78,403,333 (GRCm39)	F7C	possibly damaging	Het
Retnlg	A	T	16: 48,694,697 (GRCm39)	Q115L	possibly damaging	Het
Rhobtb1	G	A	10: 69,105,983 (GRCm39)	V183I	probably benign	Het
Rims1	T	C	1: 22,361,329 (GRCm39)	Q1186R	probably damaging	Het
Ryr1	A	G	7: 28,794,522 (GRCm39)	F1246L	possibly damaging	Het
Samm50	A	G	15: 84,094,811 (GRCm39)	N401S	possibly damaging	Het
Scn3a	T	A	2: 65,336,537 (GRCm39)	I690F	probably damaging	Het
Sdk1	A	G	5: 141,944,993 (GRCm39)	D304G	probably damaging	Het
Skint6	T	C	4: 113,093,594 (GRCm39)	Y183C	probably damaging	Het
Slamf1	A	T	1: 171,604,829 (GRCm39)	T200S	probably benign	Het
Slc34a2	C	T	5: 53,226,793 (GRCm39)	R639C	probably damaging	Het
Smap1	A	T	1: 23,892,517 (GRCm39)	M149K	probably benign	Het
Sorcs1	T	C	19: 50,132,419 (GRCm39)		probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Spata13	G	A	14: 60,991,356 (GRCm39)	W366*	probably null	Het
Spata31e4	C	A	13: 50,855,116 (GRCm39)	S251R	probably damaging	Het
Strip1	G	A	3: 107,534,314 (GRCm39)	T136I	probably benign	Het
Tacr1	A	T	6: 82,534,053 (GRCm39)	T360S	probably benign	Het
Tbc1d14	T	A	5: 36,728,600 (GRCm39)		probably benign	Het
Tcaf2	T	C	6: 42,604,996 (GRCm39)	Y596C	probably damaging	Het
Tspoap1	C	T	11: 87,669,269 (GRCm39)	T1454I	possibly damaging	Het
Ttn	A	T	2: 76,744,927 (GRCm39)	M5374K	probably benign	Het
Uts2r	G	A	11: 121,051,705 (GRCm39)	V190I	possibly damaging	Het
Vmn1r181	A	G	7: 23,684,008 (GRCm39)	T158A	possibly damaging	Het
Wdr35	A	T	12: 9,068,150 (GRCm39)	T778S	probably benign	Het
Xrn1	A	T	9: 95,856,797 (GRCm39)		probably benign	Het
Zfp35	A	T	18: 24,136,326 (GRCm39)	K223N	probably damaging	Het
Zfp764	T	C	7: 127,003,943 (GRCm39)	Q396R	probably benign	Het
Zfyve1	T	C	12: 83,605,421 (GRCm39)	Y11C	probably damaging	Het

Other mutations in Cd44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Cd44	APN	2	102,686,292 (GRCm39)	missense	possibly damaging	0.73
IGL01087:Cd44	APN	2	102,652,607 (GRCm39)	missense	probably damaging	1.00
IGL01413:Cd44	APN	2	102,644,632 (GRCm39)	missense	probably damaging	0.99
IGL01830:Cd44	APN	2	102,672,603 (GRCm39)	splice site	probably benign
IGL02221:Cd44	APN	2	102,676,858 (GRCm39)	missense	probably benign	0.01
IGL02271:Cd44	APN	2	102,661,732 (GRCm39)	missense	possibly damaging	0.93
IGL02552:Cd44	APN	2	102,679,076 (GRCm39)	missense	probably benign	0.01
IGL02861:Cd44	APN	2	102,662,826 (GRCm39)	critical splice donor site	probably null
IGL03309:Cd44	APN	2	102,644,522 (GRCm39)	missense	probably damaging	1.00
IGL03352:Cd44	APN	2	102,675,759 (GRCm39)	intron	probably benign
Jialin	UTSW	2	102,695,715 (GRCm39)	missense	probably damaging	0.99
Kale	UTSW	2	102,654,648 (GRCm39)	missense	probably damaging	0.99
N/A - 535:Cd44	UTSW	2	102,644,534 (GRCm39)	missense	possibly damaging	0.50
R0488:Cd44	UTSW	2	102,664,564 (GRCm39)	splice site	probably benign
R1441:Cd44	UTSW	2	102,676,763 (GRCm39)	missense	probably damaging	0.99
R1482:Cd44	UTSW	2	102,661,728 (GRCm39)	missense	probably damaging	1.00
R1497:Cd44	UTSW	2	102,673,300 (GRCm39)	splice site	probably null
R1803:Cd44	UTSW	2	102,664,597 (GRCm39)	missense	probably damaging	1.00
R1952:Cd44	UTSW	2	102,683,432 (GRCm39)	missense	probably damaging	0.98
R2093:Cd44	UTSW	2	102,644,629 (GRCm39)	missense	probably damaging	1.00
R2180:Cd44	UTSW	2	102,658,955 (GRCm39)	missense	possibly damaging	0.66
R2425:Cd44	UTSW	2	102,691,931 (GRCm39)	missense	probably damaging	1.00
R3687:Cd44	UTSW	2	102,731,695 (GRCm39)	splice site	probably null
R3820:Cd44	UTSW	2	102,731,738 (GRCm39)	splice site	probably null
R3821:Cd44	UTSW	2	102,731,738 (GRCm39)	splice site	probably null
R3822:Cd44	UTSW	2	102,731,738 (GRCm39)	splice site	probably null
R4060:Cd44	UTSW	2	102,731,687 (GRCm39)	missense	probably damaging	1.00
R4633:Cd44	UTSW	2	102,683,392 (GRCm39)	missense	possibly damaging	0.86
R4647:Cd44	UTSW	2	102,668,274 (GRCm39)	missense	possibly damaging	0.68
R5087:Cd44	UTSW	2	102,661,699 (GRCm39)	missense	possibly damaging	0.83
R5118:Cd44	UTSW	2	102,695,715 (GRCm39)	missense	probably damaging	0.99
R5449:Cd44	UTSW	2	102,662,891 (GRCm39)	missense	probably damaging	1.00
R5642:Cd44	UTSW	2	102,731,687 (GRCm39)	missense	probably damaging	1.00
R5928:Cd44	UTSW	2	102,654,648 (GRCm39)	missense	probably damaging	0.99
R5995:Cd44	UTSW	2	102,692,015 (GRCm39)	missense	probably damaging	1.00
R5999:Cd44	UTSW	2	102,675,742 (GRCm39)	missense	probably benign	0.42
R7050:Cd44	UTSW	2	102,644,482 (GRCm39)	missense	probably damaging	0.99
R7350:Cd44	UTSW	2	102,664,607 (GRCm39)	missense	probably benign	0.19
R7797:Cd44	UTSW	2	102,679,079 (GRCm39)	missense	probably benign	0.34
R7866:Cd44	UTSW	2	102,672,604 (GRCm39)	critical splice donor site	probably null
R8138:Cd44	UTSW	2	102,662,842 (GRCm39)	missense	probably benign	0.00
R8185:Cd44	UTSW	2	102,654,665 (GRCm39)	missense	possibly damaging	0.52
R8732:Cd44	UTSW	2	102,664,645 (GRCm39)	missense	possibly damaging	0.67
R8955:Cd44	UTSW	2	102,683,363 (GRCm39)	missense	probably damaging	0.98
R9249:Cd44	UTSW	2	102,661,747 (GRCm39)	missense	possibly damaging	0.51
R9548:Cd44	UTSW	2	102,661,832 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- GCACTCTCCATCCTCATGTAAAATAG -3'
(R):5'- TGGCATCCCAGACGTTCATG -3'

Sequencing Primer
(F):5'- ATGCCTGGCACATTAGTACCATG -3'
(R):5'- GACGTTCATGTCTATTGCTTCTTG -3'

Posted On

2015-12-21